http://identifiers.org/exac.variant/19-46319090-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46319090
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46319090
    reference: chr 19
allele count: 2
allele frequency: 2.217934216071151e-5
allele num: 90174
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.3687+19G>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.4837+19G>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598155
  gene symbol: SYMPK
  hgvsc: ENST00000598155.1:n.1315+19G>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598364
  gene symbol: SYMPK
  hgvsc: ENST00000598364.1:n.765+19G>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.*1580+19G>T
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12098
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23437
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11795
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2576
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4542
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13940
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2504
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25546
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3611
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1914
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

19-46319091-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46319091
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46319091
    reference: chr 19
allele count: 1
allele frequency: 1.101515685583363e-5
allele num: 90784
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.3687+18C>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598155
  gene symbol: SYMPK
  hgvsc: ENST00000598155.1:n.1315+18C>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.4837+18C>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598364
  gene symbol: SYMPK
  hgvsc: ENST00000598364.1:n.765+18C>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.*1580+18C>A
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11964
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5758
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13922
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 2480
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3485
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26908
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4183
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2357
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-46319093-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46319093
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46319093
    reference: chr 19
allele count: 4
allele frequency: 4.360718646432932e-5
allele num: 91728
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598155
  gene symbol: SYMPK
  hgvsc: ENST00000598155.1:n.1315+16T>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.*1580+16T>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598364
  gene symbol: SYMPK
  hgvsc: ENST00000598364.1:n.765+16T>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.3687+16T>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.4837+16T>C
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11729
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5954
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3210
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 469
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 650
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genotype quality: GenotypeQuality
  all individuals: 323
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

19-46319094-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46319094
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46319094
    reference: chr 19
allele count: 3
allele frequency: 3.259310764417018e-5
allele num: 92044
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598364
  gene symbol: SYMPK
  hgvsc: ENST00000598364.1:n.765+15C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.3687+15C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.4837+15C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.*1580+15C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598155
  gene symbol: SYMPK
  hgvsc: ENST00000598155.1:n.1315+15C>T
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11626
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2427
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3634
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29018
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13501
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3147
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1978
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2115
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff

19-46319096-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46319096
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46319096
    reference: chr 19
allele count: 57
allele frequency: 6.156970338525352e-4
allele num: 92578
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598364
  gene symbol: SYMPK
  hgvsc: ENST00000598364.1:n.765+13G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598155
  gene symbol: SYMPK
  hgvsc: ENST00000598155.1:n.1315+13G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.4837+13G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.*1580+13G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.3687+13G>A
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11378
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9371
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6184
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26909
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3425
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 9.75e1
  variant carriers: 55
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3032
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1877
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

19-46319099-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46319099
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46319099
    reference: chr 19
allele count: 14
allele frequency: 1.495854346525344e-4
allele num: 93592
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598155
  gene symbol: SYMPK
  hgvsc: ENST00000598155.1:n.1315+10G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.3687+10G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.*1580+10G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.4837+10G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598364
  gene symbol: SYMPK
  hgvsc: ENST00000598364.1:n.765+10G>A
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8481
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10931
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28088
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6510
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3055
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2279
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2781
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2277
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30087
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

19-46319109-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46319109
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46319109
    reference: chr 19
allele count: 1
allele frequency: 1.029590428927373e-5
allele num: 97126
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598155
  gene symbol: SYMPK
  hgvsc: ENST00000598155.1:n.1315G>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.4837G>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.3687G>C
  hgvsp: ENSP00000245934.7:p.Lys1229Asn
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.*1580G>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598364
  gene symbol: SYMPK
  hgvsc: ENST00000598364.1:n.765G>C
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9500
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31270
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34743
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11048
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys1229Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

19-46319115-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46319115
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46319115
    reference: chr 19
allele count: 1
allele frequency: 1.012883882991654e-5
allele num: 98728
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.3681A>G
  hgvsp: ENST00000245934.7:c.3681A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598155
  gene symbol: SYMPK
  hgvsc: ENST00000598155.1:n.1309A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.*1574A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.4831A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598364
  gene symbol: SYMPK
  hgvsc: ENST00000598364.1:n.759A>G
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5506
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8765
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1928
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1803
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2753
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10018
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35671
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1805
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu1227Leu
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

19-46319116-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46319116
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46319116
    reference: chr 19
allele count: 2
allele frequency: 2.016250982922354e-5
allele num: 99194
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598155
  gene symbol: SYMPK
  hgvsc: ENST00000598155.1:n.1308T>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.4830T>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.3680T>A
  hgvsp: ENSP00000245934.7:p.Leu1227Gln
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598364
  gene symbol: SYMPK
  hgvsc: ENST00000598364.1:n.758T>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.*1573T>A
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32892
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8621
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2845
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36889
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1740
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu1227Gln
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

19-46319117-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46319117
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46319117
    reference: chr 19
allele count: 1
allele frequency: 1.00682628219327e-5
allele num: 99322
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.3679C>T
  hgvsp: ENST00000245934.7:c.3679C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.4829C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.*1572C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598364
  gene symbol: SYMPK
  hgvsc: ENST00000598364.1:n.757C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598155
  gene symbol: SYMPK
  hgvsc: ENST00000598155.1:n.1307C>T
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8504
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2836
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 364
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 9836
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 783
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genotype quality: GenotypeQuality
  all individuals: 286
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genotype quality: GenotypeQuality
  all individuals: 427
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genotype quality: GenotypeQuality
  all individuals: 1908
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu1227Leu
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD

19-46319119-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46319119
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46319119
    reference: chr 19
allele count: 3
allele frequency: 2.995387103860055e-5
allele num: 100154
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.3677C>T
  hgvsp: ENSP00000245934.7:p.Pro1226Leu
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598155
  gene symbol: SYMPK
  hgvsc: ENST00000598155.1:n.1305C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.4827C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598364
  gene symbol: SYMPK
  hgvsc: ENST00000598364.1:n.755C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.*1570C>T
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4951
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8288
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 237
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 350
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genotype quality: GenotypeQuality
  all individuals: 1608
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  variant carriers: 0
hgvs: p.Pro1226Leu
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

19-46319120-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46319120
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46319120
    reference: chr 19
allele count: 1
allele frequency: 9.956787542067427e-6
allele num: 100434
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.3676C>T
  hgvsp: ENSP00000245934.7:p.Pro1226Ser
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598364
  gene symbol: SYMPK
  hgvsc: ENST00000598364.1:n.754C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.*1569C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598155
  gene symbol: SYMPK
  hgvsc: ENST00000598155.1:n.1304C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.4826C>T
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 4
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genotype quality: GenotypeQuality
  all individuals: 448
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2988
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro1226Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

22-42296942-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42296942
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42296942
    reference: chr 22
allele count: 4
allele frequency: 4.361859897060107e-5
allele num: 91704
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.2907+440G>A
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1372+440G>A
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000490262
  gene symbol: SREBF2
  hgvsc: ENST00000490262.1:n.416+440G>A
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.275+440G>A
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1878+440G>A
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7451
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7414
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13706
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25708
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3047
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2581
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1502
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

22-42296943-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42296943
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42296943
    reference: chr 22
allele count: 2
allele frequency: 2.169009196598994e-5
allele num: 92208
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.2907+441G>A
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000490262
  gene symbol: SREBF2
  hgvsc: ENST00000490262.1:n.416+441G>A
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1878+441G>A
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.275+441G>A
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1372+441G>A
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23222
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7482
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13585
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7372
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2506
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3101
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15230
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26578
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

22-42296952-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42296952
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42296952
    reference: chr 22
allele count: 2
allele frequency: 2.111219017860913e-5
allele num: 94732
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000207932
  ensembl transcript: ENST00000385197
  gene symbol: MIR33A
  hgvsc: ENST00000385197.1:n.5G>C
  variant of: http://identifiers.org/hgnc/31634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.2907+450G>C
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1372+450G>C
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1878+450G>C
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.275+450G>C
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000490262
  gene symbol: SREBF2
  hgvsc: ENST00000490262.1:n.416+450G>C
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25326
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12436
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1996
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1997
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 882
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29887
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

22-42296966-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42296966
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42296966
    reference: chr 22
allele count: 1
allele frequency: 1.021930631348744e-5
allele num: 97854
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000207932
  ensembl transcript: ENST00000385197
  gene symbol: MIR33A
  hgvsc: ENST00000385197.1:n.19G>C
  variant of: http://identifiers.org/hgnc/31634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1878+464G>C
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.275+464G>C
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1372+464G>C
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000490262
  gene symbol: SREBF2
  hgvsc: ENST00000490262.1:n.416+464G>C
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.2907+464G>C
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5370
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11046
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13205
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

22-42296974-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42296974
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42296974
    reference: chr 22
allele count: 1
allele frequency: 1.014137070766485e-5
allele num: 98606
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000490262
  gene symbol: SREBF2
  hgvsc: ENST00000490262.1:n.416+472T>C
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.275+472T>C
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000207932
  ensembl transcript: ENST00000385197
  gene symbol: MIR33A
  hgvsc: ENST00000385197.1:n.27T>C
  variant of: http://identifiers.org/hgnc/31634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.2907+472T>C
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1372+472T>C
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1878+472T>C
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10751
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5545
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3366
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32648
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum

22-42296978-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42296978
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42296978
    reference: chr 22
allele count: 1
allele frequency: 1.016549424633026e-5
allele num: 98372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1372+476C>G
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000490262
  gene symbol: SREBF2
  hgvsc: ENST00000490262.1:n.416+476C>G
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000207932
  ensembl transcript: ENST00000385197
  gene symbol: MIR33A
  hgvsc: ENST00000385197.1:n.31C>G
  variant of: http://identifiers.org/hgnc/31634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.275+476C>G
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1878+476C>G
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.2907+476C>G
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9350
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10783
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5875
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3323
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13609
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31587
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP

22-42296985-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42296985
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42296985
    reference: chr 22
allele count: 4
allele frequency: 4.081965874765287e-5
allele num: 97992
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1372+483T>C
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000207932
  ensembl transcript: ENST00000385197
  gene symbol: MIR33A
  hgvsc: ENST00000385197.1:n.38T>C
  variant of: http://identifiers.org/hgnc/31634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1878+483T>C
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.2907+483T>C
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000490262
  gene symbol: SREBF2
  hgvsc: ENST00000490262.1:n.416+483T>C
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.275+483T>C
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9377
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25116
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6730
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10960
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14476
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3267
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

22-42296995-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42296995
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42296995
    reference: chr 22
allele count: 46
allele frequency: 4.747847986293169e-4
allele num: 96886
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.275+493A>G
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1878+493A>G
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1372+493A>G
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000490262
  gene symbol: SREBF2
  hgvsc: ENST00000490262.1:n.416+493A>G
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: true
  consequence: mature_miRNA_variant
  ensembl gene: ENSG00000207932
  ensembl transcript: ENST00000385197
  gene symbol: MIR33A
  hgvsc: ENST00000385197.1:n.48A>G
  variant of: http://identifiers.org/hgnc/31634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.2907+493A>G
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: mature miRNA
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9015
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 11406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8066
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23391
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1953
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1735
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28293
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15856
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

22-42297000-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42297000
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42297000
    reference: chr 22
allele count: 1
allele frequency: 1.034811043503456e-5
allele num: 96636
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000490262
  gene symbol: SREBF2
  hgvsc: ENST00000490262.1:n.416+498T>G
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1878+498T>G
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: true
  consequence: mature_miRNA_variant
  ensembl gene: ENSG00000207932
  ensembl transcript: ENST00000385197
  gene symbol: MIR33A
  hgvsc: ENST00000385197.1:n.53T>G
  variant of: http://identifiers.org/hgnc/31634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1372+498T>G
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.275+498T>G
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.2907+498T>G
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: mature miRNA
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11521
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8526
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22991
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28711
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16398
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1981
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3182
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1792
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff

22-42297020-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42297020
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42297020
    reference: chr 22
allele count: 3
allele frequency: 3.230948175591263e-5
allele num: 92852
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1372+518C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1878+518C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.275+518C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000490262
  gene symbol: SREBF2
  hgvsc: ENST00000490262.1:n.416+518C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.2907+518C>T
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12767
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14020
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16351
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2817
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2659
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
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genotype quality: GenotypeQuality
  all individuals: 3055
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21083
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

22-42297021-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42297021
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42297021
    reference: chr 22
allele count: 1
allele frequency: 1.076797174484214e-5
allele num: 92868
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.275+519C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.2907+519C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000490262
  gene symbol: SREBF2
  hgvsc: ENST00000490262.1:n.416+519C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1372+519C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1878+519C>T
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8085
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12800
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 233
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
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genotype depth: GenotypeDepth
  all individuals: 104
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 695
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 296
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genotype quality: GenotypeQuality
  all individuals: 1343
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 798
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

22-42297029-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42297029
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42297029
    reference: chr 22
allele count: 1
allele frequency: 1.098273514035935e-5
allele num: 91052
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1372+527C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1878+527C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000490262
  gene symbol: SREBF2
  hgvsc: ENST00000490262.1:n.416+527C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.275+527C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.2907+527C>T
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16788
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3420
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

22-42297034-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42297034
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42297034
    reference: chr 22
allele count: 1
allele frequency: 1.113759383422805e-5
allele num: 89786
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.2907+532G>A
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.275+532G>A
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1372+532G>A
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000490262
  gene symbol: SREBF2
  hgvsc: ENST00000490262.1:n.416+532G>A
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1878+532G>A
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13538
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18771
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24293
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3962
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4131
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16164
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

22-42297044-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42297044
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42297044
    reference: chr 22
allele count: 1
allele frequency: 1.158882836945185e-5
allele num: 86290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1372+542C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000490262
  gene symbol: SREBF2
  hgvsc: ENST00000490262.1:n.416+542C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1878+542C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.2907+542C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.275+542C>T
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21959
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14138
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3134
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5640
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24960
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1704
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10234
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
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genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 282
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5147
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

22-42297045-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42297045
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42297045
    reference: chr 22
allele count: 1
allele frequency: 1.167242506303109e-5
allele num: 85672
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1372+543C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.275+543C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000490262
  gene symbol: SREBF2
  hgvsc: ENST00000490262.1:n.416+543C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1878+543C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.2907+543C>T
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5999
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22089
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
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  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

22-42297049-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42297049
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42297049
    reference: chr 22
allele count: 1
allele frequency: 1.196458482890644e-5
allele num: 83580
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000490262
  gene symbol: SREBF2
  hgvsc: ENST00000490262.1:n.416+547C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.275+547C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1878+547C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.2907+547C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1372+547C>T
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1819
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7059
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23630
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3968
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3183
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5453
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

22-42297051-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42297051
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42297051
    reference: chr 22
allele count: 3
allele frequency: 3.614980479105413e-5
allele num: 82988
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000490262
  gene symbol: SREBF2
  hgvsc: ENST00000490262.1:n.416+549G>A
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.275+549G>A
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.2907+549G>A
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1372+549G>A
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1878+549G>A
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21805
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7981
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15070
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4158
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1760
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3311
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5501
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23437
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1971
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

22-42297053-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42297053
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42297054
    reference: chr 22
allele count: 1
allele frequency: 1.259826647853255e-5
allele num: 79376
alternate allele: AG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.275+553dupG
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000490262
  gene symbol: SREBF2
  hgvsc: ENST00000490262.1:n.416+553dupG
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1878+553dupG
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1372+553dupG
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.2907+553dupG
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9569
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20550
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5430
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2880
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4797
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20322
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3978
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4317
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3699
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

22-42297055-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42297055
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42297055
    reference: chr 22
allele count: 1
allele frequency: 1.262020747621091e-5
allele num: 79238
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.275+553G>C
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000490262
  gene symbol: SREBF2
  hgvsc: ENST00000490262.1:n.416+553G>C
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1878+553G>C
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1372+553G>C
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.2907+553G>C
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9467
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20473
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3543
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16564
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5376
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20876
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3183
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 3942
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4590
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4833
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

22-42297063-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42297063
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42297063
    reference: chr 22
allele count: 2
allele frequency: 2.794857462269424e-5
allele num: 71560
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.2907+561A>G
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.275+561A>G
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1878+561A>G
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1372+561A>G
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000490262
  gene symbol: SREBF2
  hgvsc: ENST00000490262.1:n.416+561A>G
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4262
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3676
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18493
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19029
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8902
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4972
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2167
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4079
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4121
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8076
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1858
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1383
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD

22-42298946-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42298946
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42298946
    reference: chr 22
allele count: 1
allele frequency: 1.55850632753569e-5
allele num: 64164
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.2908-28C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.276-28C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000490262
  gene symbol: SREBF2
  hgvsc: ENST00000490262.1:n.417-28C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1879-28C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1373-28C>T
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24772
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12920
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3455
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4362
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 3109
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24209
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9978
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

22-42298953-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42298953
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42298953
    reference: chr 22
allele count: 2
allele frequency: 2.955694144769899e-5
allele num: 67666
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.276-21C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000490262
  gene symbol: SREBF2
  hgvsc: ENST00000490262.1:n.417-21C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.2908-21C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1879-21C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1373-21C>T
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24124
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10472
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 610
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 753
  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 185
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genotype quality: GenotypeQuality
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

22-42298954-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42298954
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42298954
    reference: chr 22
allele count: 1
allele frequency: 1.465931746217896e-5
allele num: 68216
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.276-20T>C
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000490262
  gene symbol: SREBF2
  hgvsc: ENST00000490262.1:n.417-20T>C
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1879-20T>C
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1373-20T>C
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.2908-20T>C
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS

22-42298955-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42298955
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42298955
    reference: chr 22
allele count: 2
allele frequency: 2.917918940211841e-5
allele num: 68542
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000490262
  gene symbol: SREBF2
  hgvsc: ENST00000490262.1:n.417-19C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.276-19C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1373-19C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.2908-19C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1879-19C>T
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9912
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 2.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3799
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4834
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

22-42298957-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42298957
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42298957
    reference: chr 22
allele count: 11
allele frequency: 1.585151454016197e-4
allele num: 69394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1373-17C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.2908-17C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.276-17C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000490262
  gene symbol: SREBF2
  hgvsc: ENST00000490262.1:n.417-17C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1879-17C>T
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9480
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23511
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14788
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2059
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3369
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4842
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3599
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24075
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 5.25e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

22-42298958-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42298958
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42298958
    reference: chr 22
allele count: 3
allele frequency: 4.260516374584599e-5
allele num: 70414
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.2908-16G>A
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.276-16G>A
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1879-16G>A
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1373-16G>A
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000490262
  gene symbol: SREBF2
  hgvsc: ENST00000490262.1:n.417-16G>A
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15557
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9084
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24023
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4834
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1895
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3223
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3394
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD

22-42298960-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42298960
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42298960
    reference: chr 22
allele count: 1
allele frequency: 1.393767073646652e-5
allele num: 71748
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1879-14G>A
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000490262
  gene symbol: SREBF2
  hgvsc: ENST00000490262.1:n.417-14G>A
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.2908-14G>A
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1373-14G>A
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.276-14G>A
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8550
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22750
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23484
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3135
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1746
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3032
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4834
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17593
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

22-42298967-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42298967
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42298967
    reference: chr 22
allele count: 4
allele frequency: 5.261496369567505e-5
allele num: 76024
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.2908-7C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1879-7C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.276-7C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000490262
  gene symbol: SREBF2
  hgvsc: ENST00000490262.1:n.417-7C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1373-7C>T
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7385
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19093
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21054
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2523
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2555
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20083
  bin: 6.25e1
  variant carriers: 0
hgvs: c.2908-7C>T
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

22-42298977-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42298977
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42298977
    reference: chr 22
allele count: 1
allele frequency: 1.233806292412091e-5
allele num: 81050
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1376G>A
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1882G>A
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.279G>A
  hgvsp: ENSP00000412287.1:p.Val94Ile
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.2911G>A
  hgvsp: ENSP00000354476.4:p.Val971Ile
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000490262
  gene symbol: SREBF2
  hgvsc: ENST00000490262.1:n.420G>A
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18961
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6375
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22995
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2038
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20357
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2086
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val971Ile
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

22-42298979-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42298979
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42298979
    reference: chr 22
allele count: 1
allele frequency: 1.221329294804465e-5
allele num: 81878
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1884C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.281C>T
  hgvsp: ENST00000435061.1:c.281C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000490262
  gene symbol: SREBF2
  hgvsc: ENST00000490262.1:n.422C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.2913C>T
  hgvsp: ENST00000361204.4:c.2913C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1378C>T
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2014
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4833
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1935
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val971Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

22-42298990-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42298990
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42298990
    reference: chr 22
allele count: 1
allele frequency: 1.156523951611038e-5
allele num: 86466
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.292C>T
  hgvsp: ENSP00000412287.1:p.Thr98Ile
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1895C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1389C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.2924C>T
  hgvsp: ENSP00000354476.4:p.Thr975Ile
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000490262
  gene symbol: SREBF2
  hgvsc: ENST00000490262.1:n.433C>T
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5537
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16518
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18431
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr975Ile
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

22-42298993-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42298993
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42298993
    reference: chr 22
allele count: 3
allele frequency: 3.438947223623275e-5
allele num: 87236
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.295G>A
  hgvsp: ENSP00000412287.1:p.Cys99Tyr
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000490262
  gene symbol: SREBF2
  hgvsc: ENST00000490262.1:n.436G>A
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1898G>A
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.2927G>A
  hgvsp: ENSP00000354476.4:p.Cys976Tyr
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1392G>A
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16126
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5133
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5425
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18147
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Cys976Tyr
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

22-42299003-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42299003
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42299003
    reference: chr 22
allele count: 1
allele frequency: 1.127446559033102e-5
allele num: 88696
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.305A>G
  hgvsp: ENST00000435061.1:c.305A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1908A>G
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1402A>G
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000490262
  gene symbol: SREBF2
  hgvsc: ENST00000490262.1:n.446A>G
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.2937A>G
  hgvsp: ENST00000361204.4:c.2937A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24715
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15428
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5684
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1807
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26658
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18056
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu979Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

22-42299006-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42299006
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42299006
    reference: chr 22
allele count: 1
allele frequency: 1.123090745732255e-5
allele num: 89040
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.2940G>A
  hgvsp: ENST00000361204.4:c.2940G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000490262
  gene symbol: SREBF2
  hgvsc: ENST00000490262.1:n.449G>A
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1911G>A
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.308G>A
  hgvsp: ENST00000435061.1:c.308G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1405G>A
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15244
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5850
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5698
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24780
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18100
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27428
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu980Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum

22-42299008-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42299008
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42299008
    reference: chr 22
allele count: 3
allele frequency: 3.380281690140845e-5
allele num: 88750
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1913C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.2942C>T
  hgvsp: ENSP00000354476.4:p.Ser981Leu
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1407C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.310C>T
  hgvsp: ENSP00000412287.1:p.Ser104Leu
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5930
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24348
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18304
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26881
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1306
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4832
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Ser981Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

22-42299009-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42299009
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42299009
    reference: chr 22
allele count: 1
allele frequency: 1.136441120985522e-5
allele num: 87994
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.311G>A
  hgvsp: ENST00000435061.1:c.311G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1914G>A
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1408G>A
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.2943G>A
  hgvsp: ENST00000361204.4:c.2943G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23275
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15577
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24571
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1438
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18722
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4831
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser981Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

22-42299020-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42299020
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42299020
    reference: chr 22
allele count: 4
allele frequency: 4.622887918082426e-5
allele num: 86526
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1925C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1419C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.2954C>T
  hgvsp: ENSP00000354476.4:p.Ala985Val
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.322C>T
  hgvsp: ENSP00000412287.1:p.Ala108Val
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7234
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16069
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21754
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24289
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4833
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20292
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala985Val
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/22-42299022-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42299022
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42299022
    reference: chr 22
allele count: 1
allele frequency: 1.157594980668164e-5
allele num: 86386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.324C>A
  hgvsp: ENSP00000412287.1:p.Leu109Ile
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1421C>A
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1927C>A
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.2956C>A
  hgvsp: ENSP00000354476.4:p.Leu986Ile
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7532
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5752
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24330
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20921
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu986Ile
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

22-42299030-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42299030
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42299030
    reference: chr 22
allele count: 1
allele frequency: 1.200768491834774e-5
allele num: 83280
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.332A>G
  hgvsp: ENST00000435061.1:c.332A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1935A>G
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.2964A>G
  hgvsp: ENST00000361204.4:c.2964A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1429A>G
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18027
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17574
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1570
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1729
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23414
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20714
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln988Gln
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

22-42299038-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42299038
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42299038
    reference: chr 22
allele count: 2
allele frequency: 2.536011361330899e-5
allele num: 78864
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1437C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1943C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.340C>T
  hgvsp: ENSP00000412287.1:p.Ala114Val
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.2972C>T
  hgvsp: ENSP00000354476.4:p.Ala991Val
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4816
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1751
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15521
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1966
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1805
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26044
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala991Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

22-42299046-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42299046
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42299046
    reference: chr 22
allele count: 1
allele frequency: 1.307257895837691e-5
allele num: 76496
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.2980A>G
  hgvsp: ENSP00000354476.4:p.Ser994Gly
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.348A>G
  hgvsp: ENSP00000412287.1:p.Ser117Gly
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1951A>G
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1445A>G
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13009
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12050
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15856
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1973
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4829
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1917
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28521
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser994Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum

22-42299053-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42299053
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42299053
    reference: chr 22
allele count: 4
allele frequency: 5.55247084952804e-5
allele num: 72040
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.2987C>T
  hgvsp: ENSP00000354476.4:p.Ala996Val
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1958C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.355C>T
  hgvsp: ENSP00000412287.1:p.Ala119Val
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1452C>T
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4029
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13609
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21834
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4830
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31182
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2636
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12358
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2040
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala996Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD

22-42299055-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42299055
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42299055
    reference: chr 22
allele count: 2
allele frequency: 2.818727626349466e-5
allele num: 70954
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.2989G>T
  hgvsp: ENSP00000354476.4:p.Val997Leu
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1960G>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.357G>T
  hgvsp: ENSP00000412287.1:p.Val120Leu
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1454G>T
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14006
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9155
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2068
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1811
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11518
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31755
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2824
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val997Leu
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

22-42299057-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42299057
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42299057
    reference: chr 22
allele count: 2
allele frequency: 2.866397225327486e-5
allele num: 69774
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.359G>A
  hgvsp: ENST00000435061.1:c.359G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.2991G>A
  hgvsp: ENST00000361204.4:c.2991G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1962G>A
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1456G>A
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14336
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3619
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22505
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32364
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3023
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1820
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2065
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val997Val
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

22-42299060-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42299060
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42299060
    reference: chr 22
allele count: 1
allele frequency: 1.472060295589707e-5
allele num: 67932
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.2994G>A
  hgvsp: ENST00000361204.4:c.2994G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.362G>A
  hgvsp: ENST00000435061.1:c.362G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1459G>A
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1965G>A
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2395
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14871
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33419
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2097
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9655
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1799
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4827
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly998Gly
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ

22-42299063-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42299063
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42299063
    reference: chr 22
allele count: 1
allele frequency: 1.538461538461538e-5
allele num: 65000
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1968G>C
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1462G>C
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.365G>C
  hgvsp: ENSP00000412287.1:p.Glu122Asp
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.2997G>C
  hgvsp: ENSP00000354476.4:p.Glu999Asp
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15711
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3912
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23731
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7303
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4204
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34150
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1886
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2178
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu999Asp
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

22-42299065-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42299065
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42299065
    reference: chr 22
allele count: 1
allele frequency: 1.563379400913014e-5
allele num: 63964
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1464C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.367C>T
  hgvsp: ENSP00000412287.1:p.Thr123Ile
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1970C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.2999C>T
  hgvsp: ENSP00000354476.4:p.Thr1000Ile
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15834
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23963
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2840
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4538
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1885
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6913
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34573
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4826
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2152
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr1000Ile
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/22-42299068-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42299068
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42299068
    reference: chr 22
allele count: 8
allele frequency: 1.310100877767588e-4
allele num: 61064
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1973A>C
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.370A>C
  hgvsp: ENSP00000412287.1:p.Tyr124Ser
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.3002A>C
  hgvsp: ENSP00000354476.4:p.Tyr1001Ser
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1467A>C
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5099
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24499
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15921
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3914
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2156
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5406
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34721
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4834
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Tyr1001Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS

22-42299068-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42299068
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42299068
    reference: chr 22
allele count: 1
allele frequency: 1.637626097209485e-5
allele num: 61064
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1467A>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.370A>T
  hgvsp: ENSP00000412287.1:p.Tyr124Phe
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1973A>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.3002A>T
  hgvsp: ENSP00000354476.4:p.Tyr1001Phe
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24499
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5099
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15921
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5406
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34721
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1848
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Tyr1001Phe
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD

22-42299068-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42299068
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42299068
    reference: chr 22
allele count: 1
allele frequency: 1.637626097209485e-5
allele num: 61064
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1973A>G
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1467A>G
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.370A>G
  hgvsp: ENSP00000412287.1:p.Tyr124Cys
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.3002A>G
  hgvsp: ENSP00000354476.4:p.Tyr1001Cys
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5099
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24499
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15921
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34721
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4834
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5406
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Tyr1001Cys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

22-42299070-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42299070
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42299070
    reference: chr 22
allele count: 1
allele frequency: 1.666666666666667e-5
allele num: 60000
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.3004C>T
  hgvsp: ENSP00000354476.4:p.His1002Tyr
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1975C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1469C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.372C>T
  hgvsp: ENSP00000412287.1:p.His125Tyr
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5409
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15894
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24651
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5365
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34978
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2126
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5753
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1777
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4827
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His1002Tyr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

22-42299074-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42299074
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42299074
    reference: chr 22
allele count: 21
allele frequency: 3.733997155049787e-4
allele num: 56240
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.3008C>T
  hgvsp: ENSP00000354476.4:p.Ala1003Val
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1473C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.376C>T
  hgvsp: ENSP00000412287.1:p.Ala126Val
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1979C>T
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6614
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25222
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15457
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34623
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4423
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1972
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4845
  bin: 9.75e1
  variant carriers: 20
hgvs: p.Ala1003Val
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

22-42299075-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42299075
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42299075
    reference: chr 22
allele count: 4
allele frequency: 7.370283018867924e-5
allele num: 54272
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1980G>A
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.377G>A
  hgvsp: ENST00000435061.1:c.377G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.3009G>A
  hgvsp: ENST00000361204.4:c.3009G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1474G>A
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25365
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7214
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15264
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2152
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3831
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7713
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1611
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33998
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1957
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4829
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala1003Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP

22-42299075-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42299075
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42299075
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 54272
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.377G>C
  hgvsp: ENST00000435061.1:c.377G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.3009G>C
  hgvsp: ENST00000361204.4:c.3009G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1980G>C
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1474G>C
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: synonymous
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7214
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25365
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1957
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4829
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33998
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2152
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7713
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala1003Ala
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

22-42299081-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42299081
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42299081
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 50070
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.383C>T
  hgvsp: ENST00000435061.1:c.383C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1986C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.3015C>T
  hgvsp: ENST00000361204.4:c.3015C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1480C>T
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9115
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25653
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1405
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3269
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1957
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4826
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33424
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly1005Gly
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum

22-42299088-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42299088
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42299088
    reference: chr 22
allele count: 2
allele frequency: 4.727014890096904e-5
allele num: 42310
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.3022C>T
  hgvsp: ENST00000361204.4:c.3022C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1993C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.390C>T
  hgvsp: ENST00000435061.1:c.390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1487C>T
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11950
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25807
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12633
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2267
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29669
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1499
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13233
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3116
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu1008Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

22-42299092-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42299092
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42299092
    reference: chr 22
allele count: 1
allele frequency: 2.579580044368777e-5
allele num: 38766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.1997C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1491C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.394C>T
  hgvsp: ENSP00000412287.1:p.Ala132Val
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.3026C>T
  hgvsp: ENSP00000354476.4:p.Ala1009Val
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10728
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25762
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3115
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4825
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14732
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2093
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28237
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala1009Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

22-42299104-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42299104
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42299104
    reference: chr 22
allele count: 1
allele frequency: 3.168969451134491e-5
allele num: 31556
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.2009G>A
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1503G>A
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.3038G>A
  hgvsp: ENSP00000354476.4:p.Arg1013Gln
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.406G>A
  hgvsp: ENSP00000412287.1:p.Arg136Gln
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19557
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7488
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2458
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24698
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4823
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20042
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg1013Gln
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

22-42299116-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42299116
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42299116
    reference: chr 22
allele count: 4
allele frequency: 1.603849238171612e-4
allele num: 24940
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.3050G>A
  hgvsp: ENSP00000354476.4:p.Ser1017Asn
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.2021G>A
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1515G>A
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.418G>A
  hgvsp: ENSP00000412287.1:p.Ser140Asn
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26488
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19403
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4774
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16934
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1791
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4825
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26603
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3057
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser1017Asn
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

22-42299120-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42299120
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42299120
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 23182
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.422G>A
  hgvsp: ENST00000435061.1:c.422G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.2025G>A
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1519G>A
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.3054G>A
  hgvsp: ENST00000361204.4:c.3054G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3836
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28426
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18169
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1362
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3013
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1683
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15291
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28345
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4821
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Leu1018Leu
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP

22-42299121-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42299121
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42299121
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 22982
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.3055C>T
  hgvsp: ENSP00000354476.4:p.Arg1019Cys
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.423C>T
  hgvsp: ENSP00000412287.1:p.Arg142Cys
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.2026C>T
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1520C>T
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28486
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18154
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3799
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1615
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2654
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28412
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15517
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1596
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4821
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg1019Cys
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

22-42299122-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42299122
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42299122
    reference: chr 22
allele count: 1
allele frequency: 4.415400918403391e-5
allele num: 22648
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000412287
  ensembl transcript: ENST00000435061
  gene symbol: SREBF2
  hgvsc: ENST00000435061.1:c.424G>A
  hgvsp: ENSP00000412287.1:p.Arg142His
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000354476
  ensembl transcript: ENST00000361204
  gene symbol: SREBF2
  hgvsc: ENST00000361204.4:c.3056G>A
  hgvsp: ENSP00000354476.4:p.Arg1019His
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198911
  ensembl protein: ENSP00000395728
  ensembl transcript: ENST00000424354
  gene symbol: SREBF2
  hgvsc: ENST00000424354.1:c.*1521G>A
  variant of: http://identifiers.org/hgnc/11290
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198911
  ensembl transcript: ENST00000491541
  gene symbol: SREBF2
  hgvsc: ENST00000491541.1:n.2027G>A
  variant of: http://identifiers.org/hgnc/11290
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 17898
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28904
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2494
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15417
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg1019His
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: G

GenotypeQuality
all individuals: 109
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 572
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.030145488252126e-5
allele num: 49626
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8958
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14000
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6206
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6890
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3874
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.0e-2

DP
type: SiteQuality
SIO_000300: 9.9715e5

FS
type: SiteQuality
SIO_000300: 8.090000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.147e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.262e0

MQRankSum
type: SiteQuality
SIO_000300: 6.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 743
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2011
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49986
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3908
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.107320540156361e-5
allele num: 14070
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6922
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

QD
type: SiteQuality
SIO_000300: 1.667e1

DP
type: SiteQuality
SIO_000300: 1.008902e6

FS
type: SiteQuality
SIO_000300: 6.69e0

MQRankSum
type: SiteQuality
SIO_000300: 2.38e0

VQSLOD
type: SiteQuality
SIO_000300: -1.608e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

GenotypeQuality
all individuals: 95
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 399
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2055
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2095
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3978
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.930214115781126e-5
allele num: 50440
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14158
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6366
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7046
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9102
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.914e1

VQSLOD
type: SiteQuality
SIO_000300: 6.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.139e1

FS
type: SiteQuality
SIO_000300: 2.006e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

DP
type: SiteQuality
SIO_000300: 1.024686e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.1e-2

GenotypeQuality
all individuals: 32
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 443
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 696
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 4.245683555052364e-4
allele num: 7066
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4006
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50610
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14188
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9136
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.94e-1

DP
type: SiteQuality
SIO_000300: 1.030651e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -4.164e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-2

QD
type: SiteQuality
SIO_000300: 7.83e0

FS
type: SiteQuality
SIO_000300: 2.025e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

GenotypeQuality
all individuals: 29102
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2341
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2154
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13092
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.179569850194629e-4
allele num: 50866
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7158
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4036
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.173913043478261e-4
allele num: 9200
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

South Asian
type: Population
allele count: 49
allele frequency: 3.441011235955056e-3
allele num: 14240
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.01e-1

DP
type: SiteQuality
SIO_000300: 1.041581e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.248e0

VQSLOD
type: SiteQuality
SIO_000300: 5.36e0

QD
type: SiteQuality
SIO_000300: 1.139e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

GenotypeQuality
all individuals: 1024
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 12541
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1025
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14320
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.071811361200429e-4
allele num: 9330
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4098
num of homozygotes: 0

African
type: Population
allele count: 13
allele frequency: 1.992642550582465e-3
allele num: 6524
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7256
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51420
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.09e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

FS
type: SiteQuality
SIO_000300: 3.249e0

DP
type: SiteQuality
SIO_000300: 1.060361e6

MQRankSum
type: SiteQuality
SIO_000300: -1.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.535e0

QD
type: SiteQuality
SIO_000300: 1.098e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

GenotypeQuality
all individuals: 2136
bin: 2.75e1
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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variant carriers: 1

GenotypeQuality
all individuals: 2662
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2167
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.873009926952613e-5
allele num: 53390
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7564
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4354
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9692
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6878
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14590
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.411e0

MQRankSum
type: SiteQuality
SIO_000300: -1.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.84e-1

DP
type: SiteQuality
SIO_000300: 1.115874e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.95e-1

FS
type: SiteQuality
SIO_000300: 3.555e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.49e-1

QD
type: SiteQuality
SIO_000300: 3.78e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14710
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7676
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7034
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4436
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.840739240879137e-5
allele num: 54326
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9882
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.175e0

QD
type: SiteQuality
SIO_000300: 1.524e1

FS
type: SiteQuality
SIO_000300: 3.12e0

DP
type: SiteQuality
SIO_000300: 1.142038e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.98e0

VQSLOD
type: SiteQuality
SIO_000300: 7.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1939
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variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14762
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.411233418007338e-4
allele num: 7086
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.007252215954875e-4
allele num: 9928
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 672
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7714
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.14e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.31e-1

QD
type: SiteQuality
SIO_000300: 1.195e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

DP
type: SiteQuality
SIO_000300: 1.148191e6

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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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7732
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 668
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9946
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7102
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.772314777190844e-5
allele num: 14766
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.8e-2

DP
type: SiteQuality
SIO_000300: 1.152519e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.172e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.373e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.69e-1

FS
type: SiteQuality
SIO_000300: 3.22e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.456e1

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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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7776
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7192
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10092
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55012
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4568
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 678
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.022108385009436e-4
allele num: 14836
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.923e0

MQRankSum
type: SiteQuality
SIO_000300: 1.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.886e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.4e-1

DP
type: SiteQuality
SIO_000300: 1.161859e6

QD
type: SiteQuality
SIO_000300: 9.220000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 6.48e-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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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55176
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10116
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7798
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14860
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.383891502906172e-4
allele num: 7226
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.17e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -4.577e-1

QD
type: SiteQuality
SIO_000300: 7.28e0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49666
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 7.579202667879339e-5
allele num: 13194
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4090
num of homozygotes: 0

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

African
type: Population
allele count: 3
allele frequency: 3.600576092174748e-4
allele num: 8332
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 666
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.686727565824826e-4
allele num: 7444
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South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 49936
num of homozygotes: 0

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

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

Other
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East Asian
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.941973822192877e-5
allele num: 51494
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 1.142334932602239e-4
allele num: 8754
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.644e0

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 4602
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Latino
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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: 1
allele frequency: 1.872869610817695e-5
allele num: 53394
num of homozygotes: 0

South Asian
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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MQ
type: SiteQuality
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DP
type: SiteQuality
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QD
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FS
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Other
type: Population
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allele frequency: 0.0e0
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Latino
type: Population
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allele frequency: 1.085069444444444e-4
allele num: 9216
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East Asian
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allele count: 0
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4680
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13698
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8658
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.09e-1

QD
type: SiteQuality
SIO_000300: 1.552e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

DP
type: SiteQuality
SIO_000300: 1.233218e6

FS
type: SiteQuality
SIO_000300: 1.194e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.54e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.551e0

MQRankSum
type: SiteQuality
SIO_000300: 2.18e0

GenotypeQuality
all individuals: 300
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 852
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1083
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 888
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 910
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.861157640052113e-5
allele num: 53730
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9190
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13652
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 704
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4664
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

FS
type: SiteQuality
SIO_000300: 3.273e0

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.004e0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.15e-1

QD
type: SiteQuality
SIO_000300: 1.429e1

DP
type: SiteQuality
SIO_000300: 1.230355e6

GenotypeQuality
all individuals: 1721
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1599
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 917
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 2.326663564448581e-4
allele num: 8596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9130
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4672
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7778
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.738737054622948e-5
allele num: 53494
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e-1

DP
type: SiteQuality
SIO_000300: 1.217412e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.03e0

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

FS
type: SiteQuality
SIO_000300: 2.757e0

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-2

QD
type: SiteQuality
SIO_000300: 1.463e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.7e-2

GenotypeQuality
all individuals: 1226
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3174
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1385
bin: 9.75e1
variant carriers: 44

GenotypeQuality
all individuals: 299
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.169590643274854e-4
allele num: 8550
num of homozygotes: 0

East Asian
type: Population
allele count: 28
allele frequency: 3.64963503649635e-3
allele num: 7672
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4618
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 3.218234135998788e-4
allele num: 52824
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13544
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8978
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.193136e6

QD
type: SiteQuality
SIO_000300: 1.567e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

FS
type: SiteQuality
SIO_000300: 2.555e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.46e0

GenotypeQuality
all individuals: 245
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 466
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GenotypeQuality
all individuals: 375
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 694
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7664
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.899335232668566e-5
allele num: 52650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.185258e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.23e-1

QD
type: SiteQuality
SIO_000300: 1.117e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.15e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.78e0

MQ
type: SiteQuality
SIO_000300: 5.836e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

GenotypeQuality
all individuals: 1141
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1250
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20986
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variant carriers: 0

GenotypeQuality
all individuals: 906
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variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13236
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.967309370784734e-5
allele num: 50412
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 674
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7374
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.265e1

FS
type: SiteQuality
SIO_000300: 1.921e0

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.327e0

DP
type: SiteQuality
SIO_000300: 1.095968e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

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
all individuals: 814
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GenotypeQuality
all individuals: 444
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8290
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 674
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.554011179936546e-5
allele num: 13238
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4372
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.89e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

QD
type: SiteQuality
SIO_000300: 2.888e1

MQRankSum
type: SiteQuality
SIO_000300: 5.12e-1

DP
type: SiteQuality
SIO_000300: 1.095282e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.64e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.385e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.08e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 294
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GenotypeQuality
all individuals: 427
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 672
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4258
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7232
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8328
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8168
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13050
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.026588845654993e-5
allele num: 49344
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.416e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.12e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.945e0

QD
type: SiteQuality
SIO_000300: 1.057e1

DP
type: SiteQuality
SIO_000300: 1.04906e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.652e0

GenotypeQuality
all individuals: 381
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 324
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.401345291479821e-4
allele num: 7136
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8198
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4162
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8110
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48536
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 660
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.76e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.012868e6

FS
type: SiteQuality
SIO_000300: 6.002e0

VQSLOD
type: SiteQuality
SIO_000300: 7.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.367e1

GenotypeQuality
all individuals: 382
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 8.75e1
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GenotypeQuality
all individuals: 549
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GenotypeQuality
all individuals: 2428
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GenotypeQuality
all individuals: 184
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6896
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3892
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: 640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.153316106804479e-5
allele num: 46440
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7894
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7808
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.330000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.111e0

QD
type: SiteQuality
SIO_000300: 1.647e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -7.305e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

DP
type: SiteQuality
SIO_000300: 9.28318e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.5e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1326
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3864
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 1
allele frequency: 1.271294177472667e-4
allele num: 7866
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South Asian
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6852
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46068
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7710
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-3

DP
type: SiteQuality
SIO_000300: 9.19662e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.519e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.28e-1

QD
type: SiteQuality
SIO_000300: 1.423e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.9e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6392
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GenotypeQuality
all individuals: 524
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6692
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7730
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 618
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3704
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12506
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.228362599162136e-5
allele num: 44876
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

DP
type: SiteQuality
SIO_000300: 8.87483e5

MQ
type: SiteQuality
SIO_000300: 5.875e1

QD
type: SiteQuality
SIO_000300: 1.259e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.473e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -9.107e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.599999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.219e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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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: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3658
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7386
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 4.524886877828054e-4
allele num: 6630
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7696
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12434
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

QD
type: SiteQuality
SIO_000300: 8.859999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.79706e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.513e0

FS
type: SiteQuality
SIO_000300: 5.033e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.599999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.0e-2

GenotypeQuality
all individuals: 6804
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 280
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 590
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12234
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42404
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6350
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.447178002894356e-4
allele num: 6910
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3404
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.122e0

MQRankSum
type: SiteQuality
SIO_000300: -1.415e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.057e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 8.3e-1

DP
type: SiteQuality
SIO_000300: 8.51784e5

VQSLOD
type: SiteQuality
SIO_000300: 3.28e0

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

South Asian
type: Population
allele count: 1
allele frequency: 8.200754469411185e-5
allele num: 12194
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42372
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6888
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7456
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3388
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.903e1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

DP
type: SiteQuality
SIO_000300: 8.49718e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.95e-1

QD
type: SiteQuality
SIO_000300: 1.274e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.73550850399167e-4
allele num: 5762
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5990
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2884
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6966
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.549931600547196e-5
allele num: 11696
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37740
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.39e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.62e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.22e-1

DP
type: SiteQuality
SIO_000300: 8.2426e5

FS
type: SiteQuality
SIO_000300: 2.819e0

QD
type: SiteQuality
SIO_000300: 1.197e1

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
all individuals: 5279
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.978850163836759e-5
allele num: 33570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6434
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2278
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4922
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10868
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5614
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.77e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.001391e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.611e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.23e0

VQSLOD
type: SiteQuality
SIO_000300: -2.073e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.500000000000001e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e0

QD
type: SiteQuality
SIO_000300: 6.99e0

GenotypeQuality
all individuals: 305
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5828
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.625562556255625e-5
allele num: 35552
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11120
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6876
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2450
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

QD
type: SiteQuality
SIO_000300: 9.6e0

DP
type: SiteQuality
SIO_000300: 1.055518e6

VQSLOD
type: SiteQuality
SIO_000300: 8.87e-1

FS
type: SiteQuality
SIO_000300: 7.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.021e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2476
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5860
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35872
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5392
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 516
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6930
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.952551477170994e-5
allele num: 11170
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.96e-1

DP
type: SiteQuality
SIO_000300: 1.061791e6

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.883e1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.3e-3

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.963e0

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 6994
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5896
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2506
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.555555555555556e-5
allele num: 36000
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.46e-1

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.189e1

DP
type: SiteQuality
SIO_000300: 1.068543e6

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-3

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 2.97e0

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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South Asian
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 530
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African
type: Population
allele count: 9
allele frequency: 1.514131897711978e-3
allele num: 5944
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5496
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2556
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.417635384179189e-4
allele num: 7054
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.735229759299781e-5
allele num: 36560
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.580000000000001e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.081486e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

QD
type: SiteQuality
SIO_000300: 1.11e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 536
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7220
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5612
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 8.074935400516796e-5
allele num: 37152
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.092631e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.54e-1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.54e-1

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

QD
type: SiteQuality
SIO_000300: 1.05e1

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
all individuals: 291
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37894
num of homozygotes: 0

African
type: Population
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num of homozygotes: 0

East Asian
type: Population
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allele frequency: 1.737921445950643e-4
allele num: 5754
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2664
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 534
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DP
type: SiteQuality
SIO_000300: 1.108414e6

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.76e-1

QD
type: SiteQuality
SIO_000300: 6.54e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 4
allele frequency: 6.506180871828237e-4
allele num: 6148
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 7818
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 40464
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11732
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6402
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2910
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

FS
type: SiteQuality
SIO_000300: 5.278e0

MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.153739e6

VQSLOD
type: SiteQuality
SIO_000300: -2.253e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e-1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.879999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.301072299691656e-5
allele num: 43458
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3192
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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6782
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8340
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12112
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

DP
type: SiteQuality
SIO_000300: 1.204138e6

MQRankSum
type: SiteQuality
SIO_000300: -3.9e-2

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -7.9e-1

FS
type: SiteQuality
SIO_000300: 7.45e0

MQ
type: SiteQuality
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VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.01e-1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6818
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3210
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.506931886678722e-4
allele num: 6636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43976
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12190
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.23e-1

DP
type: SiteQuality
SIO_000300: 1.213536e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.392e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.568e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.47e-1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.136843454848498e-5
allele num: 46798
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8894
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6982
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7108
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3462
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.258717e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.78e-1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 4.19e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.98e-1

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: 4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7154
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7056
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3504
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8944
num of homozygotes: 0

South Asian
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allele count: 3
allele frequency: 2.362948960302458e-4
allele num: 12696
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47260
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.258e0

DP
type: SiteQuality
SIO_000300: 1.267928e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

MQ
type: SiteQuality
SIO_000300: 5.954e1

FS
type: SiteQuality
SIO_000300: 1.119e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

VQSLOD
type: SiteQuality
SIO_000300: 7.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.86e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

QD
type: SiteQuality
SIO_000300: 1.242e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48160
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12870
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9076
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.771618625277162e-4
allele num: 3608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.49e-1

FS
type: SiteQuality
SIO_000300: 1.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.156e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.32e0

DP
type: SiteQuality
SIO_000300: 1.280832e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3626
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.37324910738808e-4
allele num: 7282
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48408
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9104
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7114
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.567e-1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 1.284361e6

MQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

FS
type: SiteQuality
SIO_000300: 7.681e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.279e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3612
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 4.128819157720892e-4
allele num: 7266
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 48210
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9066
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.741e0

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.8e-2

QD
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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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7190
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 3552
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Latino
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Other
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East Asian
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South Asian
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European (Non-Finnish)
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allele frequency: 2.091700133868808e-5
allele num: 47808
num of homozygotes: 0

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
type: SiteQuality
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DP
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 8810
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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East Asian
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African
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European (Non-Finnish)
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allele frequency: 8.517524807291002e-5
allele num: 46962
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.36e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
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DP
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FS
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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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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South Asian
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East Asian
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African
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Latino
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Other
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 2.132923811961437e-5
allele num: 46884
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VQSLOD
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MQ
type: SiteQuality
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ReadPosRankSum
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QD
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InbreedingCoeff
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FS
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DP
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ClippingRankSum
type: SiteQuality
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MQRankSum
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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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South Asian
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Other
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Latino
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African
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European (Finnish)
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East Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.203733e6

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e0

VQSLOD
type: SiteQuality
SIO_000300: -2.874e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 4.67e0

GenotypeQuality
all individuals: 730
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1032
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4831
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 305
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12092
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6166
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.351060328208022e-5
allele num: 42534
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.269680040629761e-4
allele num: 7876
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3032
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.74e-1

FS
type: SiteQuality
SIO_000300: 3.303e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.777e0

DP
type: SiteQuality
SIO_000300: 1.147029e6

QD
type: SiteQuality
SIO_000300: 2.49e0

VQSLOD
type: SiteQuality
SIO_000300: -2.055e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.37e-1

GenotypeQuality
all individuals: 340
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1657
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.428481227840109e-5
allele num: 41178
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6418
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11912
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5962
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7542
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2912
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

QD
type: SiteQuality
SIO_000300: 4.43e0

FS
type: SiteQuality
SIO_000300: 2.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.88e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.177e0

DP
type: SiteQuality
SIO_000300: 1.11904e6

MQRankSum
type: SiteQuality
SIO_000300: -8.73e-1

GenotypeQuality
all individuals: 467
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1772
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2706
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 540
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 3.453634950785702e-4
allele num: 11582
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7002
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6144
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.16e0

DP
type: SiteQuality
SIO_000300: 1.066795e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.900000000000001e-3

QD
type: SiteQuality
SIO_000300: 1.266e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-1

FS
type: SiteQuality
SIO_000300: 1.195e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.94e0

GenotypeQuality
all individuals: 423
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4830
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 259
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5448
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 526
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6840
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6074
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.275096270506936e-5
allele num: 37914
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.93e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.279999999999999e0

DP
type: SiteQuality
SIO_000300: 1.052274e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.63e-1

GenotypeQuality
all individuals: 224
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4831
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 391
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variant carriers: 0

GenotypeQuality
all individuals: 10807
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6682
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5994
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 524
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.376344086021505e-5
allele num: 37200
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11418
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5354
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.338e0

VQSLOD
type: SiteQuality
SIO_000300: 5.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.999999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.294e0

DP
type: SiteQuality
SIO_000300: 1.039768e6

MQRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.76e-1

QD
type: SiteQuality
SIO_000300: 1.343e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 250
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3432
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 516
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.559575795383656e-4
allele num: 6412
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5826
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36134
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2522
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5170
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.999999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.89e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e0

VQSLOD
type: SiteQuality
SIO_000300: -2.561e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.632e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.938e0

DP
type: SiteQuality
SIO_000300: 1.017631e6

QD
type: SiteQuality
SIO_000300: 2.198e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 351
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4827
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 246
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6004
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4914
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.7825311942959e-4
allele num: 5610
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34384
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 494
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11174
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.79e-1

DP
type: SiteQuality
SIO_000300: 9.83155e5

VQSLOD
type: SiteQuality
SIO_000300: -9.719e-1

QD
type: SiteQuality
SIO_000300: 7.83e0

FS
type: SiteQuality
SIO_000300: 8.888e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.04e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.12e-1

GenotypeQuality
all individuals: 814
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33830
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.004141905276428e-5
allele num: 11106
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5882
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2348
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4770
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.54e-1

FS
type: SiteQuality
SIO_000300: 1.145e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.304e0

QD
type: SiteQuality
SIO_000300: 1.256e1

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.14e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.508e0

DP
type: SiteQuality
SIO_000300: 9.72291e5

VQSLOD
type: SiteQuality
SIO_000300: -4.819e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
all individuals: 198
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5522
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 2.179191831143764e-4
allele num: 32122
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5328
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.191176470588235e-5
allele num: 10880
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4536
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5538
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2192
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.45029e5

VQSLOD
type: SiteQuality
SIO_000300: -2.791e-1

QD
type: SiteQuality
SIO_000300: 1.26e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.06e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e0

MQRankSum
type: SiteQuality
SIO_000300: 4.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.41e-1

FS
type: SiteQuality
SIO_000300: 8.173999999999999e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 242
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5522
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4536
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.191176470588235e-5
allele num: 10880
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5328
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 468
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5538
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2192
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32122
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.791e-1

DP
type: SiteQuality
SIO_000300: 9.45029e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.06e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.07e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 8.173999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e0

QD
type: SiteQuality
SIO_000300: 1.26e1

GenotypeQuality
all individuals: 241
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1848
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5522
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2156
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5538
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2192
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10880
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.113131187348235e-5
allele num: 32122
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4536
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 468
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.45029e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.06e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.07e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e0

VQSLOD
type: SiteQuality
SIO_000300: -2.791e-1

FS
type: SiteQuality
SIO_000300: 8.173999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-2

QD
type: SiteQuality
SIO_000300: 1.26e1

GenotypeQuality
all individuals: 117
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10824
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5296
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4436
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2152
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.85459940652819e-4
allele num: 5392
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 462
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.36767e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.37e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.0641e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.852e0

MQRankSum
type: SiteQuality
SIO_000300: 6.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.69e0

VQSLOD
type: SiteQuality
SIO_000300: -1.026e0

QD
type: SiteQuality
SIO_000300: 1.607e1

GenotypeQuality
all individuals: 176
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 62
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7057
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 16
allele frequency: 3.214142225793491e-3
allele num: 4978
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 8.041817450743868e-4
allele num: 4974
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29296
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 420
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.46969696969697e-5
allele num: 10560
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4092
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1920
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.59e-2

QD
type: SiteQuality
SIO_000300: 1.274e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.202e0

VQSLOD
type: SiteQuality
SIO_000300: 3.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.08004e5

GenotypeQuality
all individuals: 602
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4832
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28144
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1840
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3926
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 6.361323155216285e-4
allele num: 4716
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.031e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

FS
type: SiteQuality
SIO_000300: 1.032e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.55e-2

QD
type: SiteQuality
SIO_000300: 1.242e1

DP
type: SiteQuality
SIO_000300: 8.94905e5

GenotypeQuality
all individuals: 116
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3831
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1611
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4832
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1840
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28144
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3926
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4716
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.242e1

VQSLOD
type: SiteQuality
SIO_000300: 7.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.93e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

FS
type: SiteQuality
SIO_000300: 1.032e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.031e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.94905e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.55e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

GenotypeQuality
all individuals: 175
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9718
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 570
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3480
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10098
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25804
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4188
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1610
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 386
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4504
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-1

QD
type: SiteQuality
SIO_000300: 6.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.198e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.06e-2

FS
type: SiteQuality
SIO_000300: 2.0502e1

DP
type: SiteQuality
SIO_000300: 8.60866e5

BaseQRankSum
type: SiteQuality
SIO_000300: -9.419999999999999e-1

GenotypeQuality
all individuals: 125
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4828
bin: 9.75e1
variant carriers: 3

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9616
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 9.417082587814295e-5
allele num: 21238
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3884
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1146
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 322
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.69e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.36e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.537e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

QD
type: SiteQuality
SIO_000300: 1.398e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

DP
type: SiteQuality
SIO_000300: 8.09309e5

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

GenotypeQuality
all individuals: 174
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19188
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1000
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2898
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3590
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 4.145936981757877e-4
allele num: 2412
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 298
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9380
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.89803e5

VQSLOD
type: SiteQuality
SIO_000300: -1.676e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.09e-2

QD
type: SiteQuality
SIO_000300: 1.048e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.75e0

GenotypeQuality
all individuals: 206
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1862
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1958
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3060
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14984
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 5.91715976331361e-4
allele num: 1690
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 672
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.95e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.97e-1

QD
type: SiteQuality
SIO_000300: 1.508e1

FS
type: SiteQuality
SIO_000300: 4.632e0

MQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.32495e5

BaseQRankSum
type: SiteQuality
SIO_000300: -4.61e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.831e-1

GenotypeQuality
all individuals: 140
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1581
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 386
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 1.557632398753894e-3
allele num: 2568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11054
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1086
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.564e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.51e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.125e-1

DP
type: SiteQuality
SIO_000300: 6.69962e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.28e-2

QD
type: SiteQuality
SIO_000300: 1.544e1

GenotypeQuality
all individuals: 173
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1573
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 140
bin: 7.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8344
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10038
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 284
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

QD
type: SiteQuality
SIO_000300: 9.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.51e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.739e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.52044e5

GenotypeQuality
all individuals: 112
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2436
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9956
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.26e0

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -9.688e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
SIO_000300: 1.225e1

DP
type: SiteQuality
SIO_000300: 6.51583e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.63e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

GenotypeQuality
all individuals: 107
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4822
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28779
bin: 7.5e0
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8290
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.111111111111111e-3
allele num: 900
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2432
num of homozygotes: 0

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