21-43504365-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43504365
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43504365
    reference: chr 21
allele count: 1
allele frequency: 8.508321138073035e-6
allele num: 117532
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.265+10T>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.481+10T>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.481+10T>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.265+10T>C
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4693
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7278
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2413
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3412
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23653
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9683
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2347
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS

21-43504366-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43504366
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43504366
    reference: chr 21
allele count: 2
allele frequency: 1.701751101883838e-5
allele num: 117526
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.265+11G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.481+11G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.265+11G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.481+11G>A
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4691
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2446
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9676
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 23724
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3404
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2347
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 1
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

21-43504367-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43504367
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43504367
    reference: chr 21
allele count: 1
allele frequency: 8.515856524849269e-6
allele num: 117428
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.265+12C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.481+12C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.481+12C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.265+12C>T
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17446
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16860
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2459
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 2341
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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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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9620
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

21-43504370-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43504370
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43504370
    reference: chr 21
allele count: 2
allele frequency: 1.705262439889499e-5
allele num: 117284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.265+15G>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.481+15G>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.265+15G>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.481+15G>T
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3364
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2337
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2693
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4629
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7263
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

21-43504373-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43504373
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43504373
    reference: chr 21
allele count: 1
allele frequency: 8.543649505322693e-6
allele num: 117046
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.265+18A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.481+18A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.481+18A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.265+18A>G
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17139
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8528
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16468
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4488
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3498
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7330
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23190
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2896
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1448
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4590
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP

21-43504373-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43504373
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43504373
    reference: chr 21
allele count: 307
allele frequency: 2.622900398134067e-3
allele num: 117046
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.481+18A>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.265+18A>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.481+18A>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.265+18A>T
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8528
  bin: 3.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 4.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 1.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 5.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17139
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 5.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 16468
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 4488
  bin: 4.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 23190
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3321
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3498
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2896
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9511
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1448
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 4
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

21-43504394-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43504394
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43504394
    reference: chr 21
allele count: 3
allele frequency: 2.602224034141179e-5
allele num: 115286
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.481+39A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.481+39A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.265+39A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.265+39A>G
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14667
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8080
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12497
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17323
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4112
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3413
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2942
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2620
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7035
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2308
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1917
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4270
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

21-43504397-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43504397
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43504397
    reference: chr 21
allele count: 2
allele frequency: 1.746602857442275e-5
allele num: 114508
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.481+42C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.265+42C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.481+42C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.265+42C>T
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7070
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13387
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4761
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2721
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3954
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1280
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2815
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7025
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15323
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1776
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4142
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1436
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

21-43504398-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43504398
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43504398
    reference: chr 21
allele count: 4
allele frequency: 3.502320287190263e-5
allele num: 114210
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.265+43G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.481+43G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.265+43G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.481+43G>A
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5039
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7035
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10408
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4702
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3286
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2657
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3833
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13425
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1995
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1433
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1827
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6650
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3247
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2299
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7028
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

21-43504399-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43504399
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43504399
    reference: chr 21
allele count: 1
allele frequency: 8.751816001820377e-6
allele num: 114262
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.481+44G>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.481+44G>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.265+44G>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.265+44G>T
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7008
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12433
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5097
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4718
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2649
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7026
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3288
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3240
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1838
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1531
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13808
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1329
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3877
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3362
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6624
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4093
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

21-43504404-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43504404
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43504404
    reference: chr 21
allele count: 3
allele frequency: 2.652754443363692e-5
allele num: 113090
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.481+49C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.481+49C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.265+49C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.265+49C>T
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10493
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6884
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4553
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9798
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3386
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1848
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3340
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4027
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7026
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3689
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2434
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3345
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3872
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2533
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2291
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2101
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ

21-43504405-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43504405
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43504405
    reference: chr 21
allele count: 2
allele frequency: 1.779802797849998e-5
allele num: 112372
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.481+50G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.265+50G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.481+50G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.265+50G>A
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4282
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6831
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6924
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4526
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9656
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8793
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2992
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3972
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3312
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7013
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3714
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4181
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4405
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1424
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5199
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2449
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3371
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2209
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1824
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

21-43504406-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43504406
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43504406
    reference: chr 21
allele count: 3
allele frequency: 2.663919869290332e-5
allele num: 112616
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.481+51G>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.265+51G>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.481+51G>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.265+51G>C
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6809
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
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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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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9567
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 1427
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3722
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3400
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2470
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3065
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3323
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2286
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4355
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7564
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7021
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5245
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum

21-43505352-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43505352
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43505352
    reference: chr 21
allele count: 1
allele frequency: 8.452513777597457e-6
allele num: 118308
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.266-49A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.482-49A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.266-49A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.482-49A>G
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4882
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6328
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5702
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2430
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
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genotype quality: GenotypeQuality
  all individuals: 3641
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4929
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26548
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1783
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8287
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3938
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3207
  bin: 9.25e1
  variant carriers: 0
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: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

21-43505358-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43505358
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43505358
    reference: chr 21
allele count: 1
allele frequency: 8.450085345861994e-6
allele num: 118342
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.482-43A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.482-43A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.266-43A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.266-43A>G
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5700
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4883
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5125
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2420
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3639
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26543
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4960
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1779
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3202
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8906
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

21-43505365-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43505365
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43505365
    reference: chr 21
allele count: 1
allele frequency: 8.439245868989148e-6
allele num: 118494
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.266-36C>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.266-36C>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.482-36C>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.482-36C>G
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4105
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6308
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4882
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3475
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5700
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3633
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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: 118
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5013
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 42
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
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genotype quality: GenotypeQuality
  all individuals: 26542
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genotype quality: GenotypeQuality
  all individuals: 9635
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3937
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1780
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/21-43505373-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43505373
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43505373
    reference: chr 21
allele count: 1
allele frequency: 8.418217021634817e-6
allele num: 118790
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.266-28A>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.482-28A>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.266-28A>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.482-28A>C
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5699
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4881
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6374
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6306
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6219
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3207
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3635
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26541
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5097
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3951
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10648
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

21-43505382-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43505382
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43505382
    reference: chr 21
allele count: 1
allele frequency: 8.382651264942076e-6
allele num: 119294
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.482-19A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.266-19A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.266-19A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.482-19A>G
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5699
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5193
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4881
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6308
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5631
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6398
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3639
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3208
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5177
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2469
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26542
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1778
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

21-43505384-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43505384
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43505384
    reference: chr 21
allele count: 1
allele frequency: 8.374928813105088e-6
allele num: 119404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.482-17T>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.482-17T>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.266-17T>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.266-17T>A
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5292
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5699
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4881
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1778
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3957
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11568
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2472
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3644
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

21-43505394-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43505394
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43505394
    reference: chr 21
allele count: 2
allele frequency: 1.66741700431861e-5
allele num: 119946
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.482-7T>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.482-7T>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.266-7T>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.266-7T>C
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5697
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2499
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3208
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26543
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3651
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1782
  bin: 8.75e1
  variant carriers: 0
hgvs: c.482-7T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

21-43505411-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43505411
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43505411
    reference: chr 21
allele count: 5
allele frequency: 4.147450147649225e-5
allele num: 120556
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.492G>A
  hgvsp: ENST00000408910.2:c.492G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.276G>A
  hgvsp: ENST00000400424.2:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.492G>A
  hgvsp: ENST00000408989.2:c.492G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.276G>A
  hgvsp: ENST00000400427.1:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6318
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6180
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5699
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6223
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2529
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26546
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12989
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3210
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3984
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg164Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

21-43505434-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43505434
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43505434
    reference: chr 21
allele count: 1
allele frequency: 8.285004142502071e-6
allele num: 120700
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.299A>G
  hgvsp: ENSP00000383276.1:p.Asn100Ser
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.22A>G
  hgvsp: ENSP00000383273.2:p.Asn8Ser
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.22A>G
  hgvsp: ENSP00000418135.1:p.Asn8Ser
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.299A>G
  hgvsp: ENSP00000383279.1:p.Asn100Ser
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.515A>G
  hgvsp: ENSP00000386126.2:p.Asn172Ser
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.22A>G
  hgvsp: ENSP00000418848.1:p.Asn8Ser
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.22A>G
  hgvsp: ENSP00000418417.1:p.Asn8Ser
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.22A>G
  hgvsp: ENSP00000420468.1:p.Asn8Ser
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.22A>G
  hgvsp: ENSP00000417444.1:p.Asn8Ser
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.515A>G
  hgvsp: ENSP00000386147.2:p.Asn172Ser
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6334
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4881
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6223
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6547
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5699
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn172Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

21-43505435-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43505435
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43505435
    reference: chr 21
allele count: 3
allele frequency: 2.48541887592789e-5
allele num: 120704
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.23C>T
  hgvsp: ENST00000485357.1:c.23C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.23C>T
  hgvsp: ENST00000491559.1:c.23C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.516C>T
  hgvsp: ENST00000408910.2:c.516C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.23C>T
  hgvsp: ENST00000468982.1:c.23C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.300C>T
  hgvsp: ENST00000400424.2:c.300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.516C>T
  hgvsp: ENST00000408989.2:c.516C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.23C>T
  hgvsp: ENST00000497243.1:c.23C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.23C>T
  hgvsp: ENST00000400421.2:c.23C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.23C>T
  hgvsp: ENST00000466434.1:c.23C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.300C>T
  hgvsp: ENST00000400427.1:c.300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4105
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4881
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5699
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn172Asn
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD

21-43505436-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43505436
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43505436
    reference: chr 21
allele count: 5242
allele frequency: 4.342999171499586e-2
allele num: 120700
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.24G>A
  hgvsp: ENSP00000418417.1:p.Val9Ile
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.301G>A
  hgvsp: ENSP00000383279.1:p.Val101Ile
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.24G>A
  hgvsp: ENSP00000417444.1:p.Val9Ile
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.24G>A
  hgvsp: ENSP00000383273.2:p.Val9Ile
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.24G>A
  hgvsp: ENSP00000418135.1:p.Val9Ile
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.301G>A
  hgvsp: ENSP00000383276.1:p.Val101Ile
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.517G>A
  hgvsp: ENSP00000386147.2:p.Val173Ile
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.517G>A
  hgvsp: ENSP00000386126.2:p.Val173Ile
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.24G>A
  hgvsp: ENSP00000418848.1:p.Val9Ile
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.24G>A
  hgvsp: ENSP00000420468.1:p.Val9Ile
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5630
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 5169
  bin: 9.75e1
  variant carriers: 4175
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 6.75e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 6478
  bin: 3.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 6.25e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4755
  bin: 5.25e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 6287
  bin: 3.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 6202
  bin: 2.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 7.25e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6197
  bin: 4.25e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 7.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 8.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 5623
  bin: 4.75e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 8.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 3862
  bin: 5.75e1
  variant carriers: 85
genotype quality: GenotypeQuality
hgvs: p.Val173Ile
num of homozygotes: 232
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

21-43505443-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43505443
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43505443
    reference: chr 21
allele count: 1
allele frequency: 8.284043275842073e-6
allele num: 120714
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.31T>C
  hgvsp: ENSP00000420468.1:p.Ile11Thr
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.31T>C
  hgvsp: ENSP00000383273.2:p.Ile11Thr
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.524T>C
  hgvsp: ENSP00000386147.2:p.Ile175Thr
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.308T>C
  hgvsp: ENSP00000383279.1:p.Ile103Thr
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.524T>C
  hgvsp: ENSP00000386126.2:p.Ile175Thr
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.31T>C
  hgvsp: ENSP00000418848.1:p.Ile11Thr
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.31T>C
  hgvsp: ENSP00000417444.1:p.Ile11Thr
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.308T>C
  hgvsp: ENSP00000383276.1:p.Ile103Thr
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.31T>C
  hgvsp: ENSP00000418417.1:p.Ile11Thr
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.31T>C
  hgvsp: ENSP00000418135.1:p.Ile11Thr
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6899
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5030
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4098
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5861
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6746
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile175Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

21-43505474-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43505474
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43505474
    reference: chr 21
allele count: 1
allele frequency: 8.287888080359362e-6
allele num: 120658
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.555G>T
  hgvsp: ENSP00000386126.2:p.Gln185His
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.62G>T
  hgvsp: ENSP00000418848.1:p.Gln21His
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.62G>T
  hgvsp: ENSP00000420468.1:p.Gln21His
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.339G>T
  hgvsp: ENSP00000383276.1:p.Gln113His
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.62G>T
  hgvsp: ENSP00000418135.1:p.Gln21His
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.339G>T
  hgvsp: ENSP00000383279.1:p.Gln113His
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.62G>T
  hgvsp: ENSP00000383273.2:p.Gln21His
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.555G>T
  hgvsp: ENSP00000386147.2:p.Gln185His
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.62G>T
  hgvsp: ENSP00000418417.1:p.Gln21His
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.62G>T
  hgvsp: ENSP00000417444.1:p.Gln21His
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7199
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5030
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4098
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln185His
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP

21-43505483-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43505483
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43505483
    reference: chr 21
allele count: 1
allele frequency: 8.292836647703714e-6
allele num: 120586
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.348C>T
  hgvsp: ENST00000400427.1:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.71C>T
  hgvsp: ENST00000497243.1:c.71C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.71C>T
  hgvsp: ENST00000485357.1:c.71C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.348C>T
  hgvsp: ENST00000400424.2:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.564C>T
  hgvsp: ENST00000408910.2:c.564C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.564C>T
  hgvsp: ENST00000408989.2:c.564C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.71C>T
  hgvsp: ENST00000491559.1:c.71C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.71C>T
  hgvsp: ENST00000468982.1:c.71C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.71C>T
  hgvsp: ENST00000466434.1:c.71C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.71C>T
  hgvsp: ENST00000400421.2:c.71C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6942
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4098
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5030
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5810
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6744
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp188Asp
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: C
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

http://identifiers.org/exac.variant/21-43505499-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43505499
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43505499
    reference: chr 21
allele count: 2
allele frequency: 1.660577881102624e-5
allele num: 120440
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.87C>A
  hgvsp: ENSP00000417444.1:p.His30Asn
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.580C>A
  hgvsp: ENSP00000386147.2:p.His194Asn
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.87C>A
  hgvsp: ENSP00000420468.1:p.His30Asn
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.580C>A
  hgvsp: ENSP00000386126.2:p.His194Asn
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.87C>A
  hgvsp: ENSP00000418848.1:p.His30Asn
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.87C>A
  hgvsp: ENSP00000418417.1:p.His30Asn
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.364C>A
  hgvsp: ENSP00000383276.1:p.His122Asn
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.87C>A
  hgvsp: ENSP00000418135.1:p.His30Asn
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.364C>A
  hgvsp: ENSP00000383279.1:p.His122Asn
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.87C>A
  hgvsp: ENSP00000383273.2:p.His30Asn
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4098
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5030
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His194Asn
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

21-43505500-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43505500
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43505500
    reference: chr 21
allele count: 18
allele frequency: 1.494619370267039e-4
allele num: 120432
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.88A>G
  hgvsp: ENSP00000417444.1:p.His30Arg
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.88A>G
  hgvsp: ENSP00000418417.1:p.His30Arg
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.365A>G
  hgvsp: ENSP00000383279.1:p.His122Arg
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.88A>G
  hgvsp: ENSP00000418848.1:p.His30Arg
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.88A>G
  hgvsp: ENSP00000383273.2:p.His30Arg
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.88A>G
  hgvsp: ENSP00000420468.1:p.His30Arg
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.88A>G
  hgvsp: ENSP00000418135.1:p.His30Arg
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.581A>G
  hgvsp: ENSP00000386147.2:p.His194Arg
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.581A>G
  hgvsp: ENSP00000386126.2:p.His194Arg
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.365A>G
  hgvsp: ENSP00000383276.1:p.His122Arg
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 6745
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5028
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4099
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6757
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His194Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

21-43505505-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43505505
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43505505
    reference: chr 21
allele count: 1
allele frequency: 8.307717869901138e-6
allele num: 120370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.93C>T
  hgvsp: ENSP00000420468.1:p.Arg32Cys
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.370C>T
  hgvsp: ENSP00000383279.1:p.Arg124Cys
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.93C>T
  hgvsp: ENSP00000418417.1:p.Arg32Cys
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.586C>T
  hgvsp: ENSP00000386126.2:p.Arg196Cys
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.93C>T
  hgvsp: ENSP00000417444.1:p.Arg32Cys
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.370C>T
  hgvsp: ENSP00000383276.1:p.Arg124Cys
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.93C>T
  hgvsp: ENSP00000418135.1:p.Arg32Cys
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.93C>T
  hgvsp: ENSP00000418848.1:p.Arg32Cys
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.586C>T
  hgvsp: ENSP00000386147.2:p.Arg196Cys
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.93C>T
  hgvsp: ENSP00000383273.2:p.Arg32Cys
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7159
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4099
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6747
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg196Cys
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD

21-43505506-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43505506
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43505506
    reference: chr 21
allele count: 4
allele frequency: 3.323031934336889e-5
allele num: 120372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.94G>A
  hgvsp: ENSP00000418135.1:p.Arg32His
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.371G>A
  hgvsp: ENSP00000383279.1:p.Arg124His
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.371G>A
  hgvsp: ENSP00000383276.1:p.Arg124His
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.587G>A
  hgvsp: ENSP00000386147.2:p.Arg196His
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.94G>A
  hgvsp: ENSP00000417444.1:p.Arg32His
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.94G>A
  hgvsp: ENSP00000418417.1:p.Arg32His
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.94G>A
  hgvsp: ENSP00000418848.1:p.Arg32His
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.587G>A
  hgvsp: ENSP00000386126.2:p.Arg196His
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.94G>A
  hgvsp: ENSP00000383273.2:p.Arg32His
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.94G>A
  hgvsp: ENSP00000420468.1:p.Arg32His
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6716
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6069
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6940
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4100
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6746
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg196His
num of homozygotes: 1
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

21-43505523-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43505523
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43505523
    reference: chr 21
allele count: 1
allele frequency: 8.3301401129567e-6
allele num: 120046
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.110+1G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.603+1G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.387+1G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.110+1G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.110+1G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.110+1G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.111G>A
  hgvsp: ENSP00000418848.1:p.Val38Ile
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.110+1G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.603+1G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.387+1G>A
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4099
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6575
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6937
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7116
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
hgvs: c.603+1G>A
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

21-43505524-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43505524
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43505524
    reference: chr 21
allele count: 2
allele frequency: 1.666666666666667e-5
allele num: 120000
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.387+2T>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.112T>C
  hgvsp: ENSP00000418848.1:p.Val38Ala
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.110+2T>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.110+2T>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.110+2T>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.110+2T>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.603+2T>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.387+2T>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.603+2T>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.110+2T>C
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4099
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5497
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: c.603+2T>C
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP

21-43505524-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43505524
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43505523
    reference: chr 21
allele count: 1
allele frequency: 8.333333333333334e-6
allele num: 120000
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.603+3delA
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.110+3delA
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.113delA
  hgvsp: ENSP00000418848.1:p.Gly39ValfsTer60
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.110+3delA
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.110+3delA
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.387+3delA
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.387+3delA
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.110+3delA
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.603+3delA
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.110+3delA
  variant of: http://identifiers.org/hgnc/12560
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5497
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4099
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly39ValfsTer60
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: TA
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD

21-43505533-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43505533
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43505533
    reference: chr 21
allele count: 1
allele frequency: 8.365120792344242e-6
allele num: 119544
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.387+11C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.110+11C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.603+11C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.110+11C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.110+11C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.603+11C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.110+11C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.121C>T
  hgvsp: ENSP00000418848.1:p.Thr41Ile
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.387+11C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.110+11C>T
  variant of: http://identifiers.org/hgnc/12560
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7032
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4099
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6069
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6742
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5667
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1938
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr41Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

21-43505537-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43505537
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43505537
    reference: chr 21
allele count: 4
allele frequency: 3.349803199062055e-5
allele num: 119410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.125C>T
  hgvsp: ENST00000497243.1:c.125C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.603+15C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.387+15C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.110+15C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.110+15C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.110+15C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.110+15C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.387+15C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.110+15C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.603+15C>T
  variant of: http://identifiers.org/hgnc/12560
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6902
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6069
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6988
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5028
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4099
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1937
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp42Asp
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

21-43505538-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43505538
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43505538
    reference: chr 21
allele count: 4
allele frequency: 3.35042047776996e-5
allele num: 119388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.110+16G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.110+16G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.603+16G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.110+16G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.110+16G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.110+16G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.387+16G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.387+16G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.126G>A
  hgvsp: ENSP00000418848.1:p.Gly43Arg
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.603+16G>A
  variant of: http://identifiers.org/hgnc/12560
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6069
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4099
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6894
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6979
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly43Arg
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/21-43505547-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43505547
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43505547
    reference: chr 21
allele count: 1608
allele frequency: 1.35201035868633e-2
allele num: 118934
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.110+25C>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.110+25C>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.387+25C>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.387+25C>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.110+25C>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.603+25C>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.110+25C>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.135C>A
  hgvsp: ENSP00000418848.1:p.Leu46Met
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.110+25C>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.603+25C>A
  variant of: http://identifiers.org/hgnc/12560
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 8.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 6863
  bin: 3.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 5.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 6873
  bin: 3.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 6056
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 5920
  bin: 2.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 9.75e1
  variant carriers: 1290
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 8.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 6714
  bin: 4.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 6.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 4977
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 6.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4993
  bin: 2.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 7.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 7.25e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu46Met
num of homozygotes: 15
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

21-43505552-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43505552
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43505552
    reference: chr 21
allele count: 1
allele frequency: 8.421194462222522e-6
allele num: 118748
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.387+30C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.387+30C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.110+30C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.110+30C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.603+30C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.603+30C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.110+30C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.110+30C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.140C>T
  hgvsp: ENST00000497243.1:c.140C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.110+30C>T
  variant of: http://identifiers.org/hgnc/12560
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4092
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6038
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6872
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4031
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
hgvs: p.His47His
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

21-43505561-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43505561
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43505561
    reference: chr 21
allele count: 1
allele frequency: 8.449228585430151e-6
allele num: 118354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.110+39T>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.110+39T>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.603+39T>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.387+39T>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.110+39T>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.110+39T>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.387+39T>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.110+39T>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.149T>C
  hgvsp: ENST00000497243.1:c.149T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.603+39T>C
  variant of: http://identifiers.org/hgnc/12560
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6869
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4092
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6978
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7053
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5623
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23186
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Cys50Cys
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

21-43505563-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43505563
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43505563
    reference: chr 21
allele count: 1
allele frequency: 8.456945689494782e-6
allele num: 118246
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.603+41G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.603+41G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.387+41G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.110+41G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.151G>A
  hgvsp: ENSP00000418848.1:p.Gly51Asp
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.110+41G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.110+41G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.110+41G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.110+41G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.387+41G>A
  variant of: http://identifiers.org/hgnc/12560
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4091
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4784
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5814
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6869
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7054
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly51Asp
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS

21-43505564-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43505564
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43505564
    reference: chr 21
allele count: 1
allele frequency: 8.461811843151855e-6
allele num: 118178
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.110+42C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.603+42C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.110+42C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.110+42C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.387+42C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.110+42C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.152C>T
  hgvsp: ENST00000497243.1:c.152C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.387+42C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.603+42C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.110+42C>T
  variant of: http://identifiers.org/hgnc/12560
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5779
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6873
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4091
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6967
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5115
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly51Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP

21-43505569-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43505569
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43505569
    reference: chr 21
allele count: 2
allele frequency: 1.69586378822053e-5
allele num: 117934
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.110+47G>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.110+47G>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.603+47G>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.387+47G>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.387+47G>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.110+47G>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.110+47G>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.157G>T
  hgvsp: ENSP00000418848.1:p.Cys53Phe
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.110+47G>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.603+47G>T
  variant of: http://identifiers.org/hgnc/12560
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4092
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6865
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7050
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Cys53Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

21-43505573-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43505573
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43505573
    reference: chr 21
allele count: 1
allele frequency: 8.514261387824607e-6
allele num: 117450
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.110+51A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.110+51A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.110+51A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.110+51A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.603+51A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.603+51A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.161A>G
  hgvsp: ENST00000497243.1:c.161A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.387+51A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.387+51A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.110+51A>G
  variant of: http://identifiers.org/hgnc/12560
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4495
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7040
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4092
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1975
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser54Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

21-43505577-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43505577
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43505577
    reference: chr 21
allele count: 1
allele frequency: 8.523405270873819e-6
allele num: 117324
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.110+55A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.110+55A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.110+55A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.387+55A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.110+55A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.165A>G
  hgvsp: ENSP00000418848.1:p.Arg56Gly
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.387+55A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.110+55A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.603+55A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.603+55A>G
  variant of: http://identifiers.org/hgnc/12560
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6861
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4092
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg56Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

21-43505578-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43505578
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43505578
    reference: chr 21
allele count: 1
allele frequency: 8.521952549768203e-6
allele num: 117344
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.387+56G>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.110+56G>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.110+56G>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.110+56G>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.110+56G>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.603+56G>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.166G>C
  hgvsp: ENSP00000418848.1:p.Arg56Thr
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.110+56G>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.387+56G>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.603+56G>C
  variant of: http://identifiers.org/hgnc/12560
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6860
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4092
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5583
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg56Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

21-43505584-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43505584
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43505584
    reference: chr 21
allele count: 1
allele frequency: 8.554612647139337e-6
allele num: 116896
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.110+62G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.110+62G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.387+62G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.603+62G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.172G>A
  hgvsp: ENSP00000418848.1:p.Arg58Lys
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.387+62G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.603+62G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.110+62G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.110+62G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.110+62G>A
  variant of: http://identifiers.org/hgnc/12560
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7019
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4092
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6858
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg58Lys
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

21-43505587-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43505587
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43505587
    reference: chr 21
allele count: 1
allele frequency: 8.577947811765514e-6
allele num: 116578
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.110+65A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.110+65A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.172+3A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.110+65A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.387+65A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.110+65A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.387+65A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.110+65A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.603+65A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.603+65A>G
  variant of: http://identifiers.org/hgnc/12560
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5115
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6858
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4091
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6808
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3557
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
hgvs: c.172+3A>G
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

21-43505588-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43505588
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43505588
    reference: chr 21
allele count: 1
allele frequency: 8.582659594555161e-6
allele num: 116514
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.110+66T>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.387+66T>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.172+4T>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.603+66T>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.110+66T>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.603+66T>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.110+66T>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.387+66T>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.110+66T>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.110+66T>A
  variant of: http://identifiers.org/hgnc/12560
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6859
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6789
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4091
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
hgvs: c.172+4T>A
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

21-43505595-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43505595
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43505595
    reference: chr 21
allele count: 112
allele frequency: 9.645028504503884e-4
allele num: 116122
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.387+73G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.603+73G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.110+73G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.172+11G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.110+73G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.603+73G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.387+73G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.110+73G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.110+73G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.110+73G>A
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7009
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3632
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5115
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 4090
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6700
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5188
  bin: 2.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6857
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 7.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 1
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

21-43505612-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43505612
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43505612
    reference: chr 21
allele count: 1
allele frequency: 8.697467297522961e-6
allele num: 114976
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.387+90G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.110+90G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.172+28G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.603+90G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.110+90G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.110+90G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.110+90G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.603+90G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.387+90G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.110+90G>A
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4091
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7564
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD

21-43505616-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43505616
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43505616
    reference: chr 21
allele count: 8
allele frequency: 6.963909538815091e-5
allele num: 114878
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.603+94G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.110+94G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.110+94G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.603+94G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.387+94G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.110+94G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.110+94G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.172+32G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.110+94G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.387+94G>A
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6749
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5107
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3132
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6799
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4090
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4785
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

21-43505616-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43505616
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43505616
    reference: chr 21
allele count: 5
allele frequency: 4.352443461759432e-5
allele num: 114878
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.387+94G>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.110+94G>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.603+94G>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.110+94G>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.110+94G>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.172+32G>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.110+94G>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.387+94G>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.110+94G>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.603+94G>C
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6799
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5107
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6179
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4090
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

21-43505620-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43505620
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43505620
    reference: chr 21
allele count: 1
allele frequency: 8.723111010310717e-6
allele num: 114638
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.387+98G>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.110+98G>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.110+98G>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.172+36G>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.387+98G>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.603+98G>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.110+98G>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.110+98G>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.110+98G>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.603+98G>C
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6705
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3019
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4090
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6774
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3463
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

21-43505620-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43505620
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43505620
    reference: chr 21
allele count: 1
allele frequency: 8.723111010310717e-6
allele num: 114638
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.110+98G>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.603+98G>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.387+98G>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.110+98G>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.172+36G>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.110+98G>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.603+98G>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.387+98G>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.110+98G>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.110+98G>T
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3019
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6705
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6774
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4090
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3463
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

21-43505627-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43505627
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43505627
    reference: chr 21
allele count: 1
allele frequency: 8.755954048753153e-6
allele num: 114208
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.110+105G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.172+43G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.387+105G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.110+105G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.603+105G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.387+105G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.603+105G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.110+105G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.110+105G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.110+105G>A
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6648
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4088
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6743
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/21-43505634-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43505634
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43505634
    reference: chr 21
allele count: 2
allele frequency: 1.775284489339416e-5
allele num: 112658
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.110+112A>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.172+50A>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.603+112A>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.110+112A>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.387+112A>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.603+112A>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.110+112A>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.387+112A>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.110+112A>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.110+112A>C
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3695
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5099
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3356
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

21-43506595-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43506595
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43506595
    reference: chr 21
allele count: 7
allele frequency: 5.743354118805383e-4
allele num: 12188
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.603+1073C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.172+1011C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.387+1073C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.110+1073C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.110+1073C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.387+1073C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.603+1073C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.110+1073C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.110+1073C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.111-45C>T
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

21-43506596-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43506596
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43506596
    reference: chr 21
allele count: 2
allele frequency: 1.63907556138338e-4
allele num: 12202
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.110+1074G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.111-44G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.110+1074G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.387+1074G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.172+1012G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.110+1074G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.603+1074G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.603+1074G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.110+1074G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.387+1074G>A
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ

21-43506603-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43506603
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43506603
    reference: chr 21
allele count: 1
allele frequency: 8.192692118630181e-5
allele num: 12206
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.603+1081A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.603+1081A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.387+1081A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.172+1019A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.110+1081A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.387+1081A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.110+1081A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.111-37A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.110+1081A>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.110+1081A>G
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: A
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

21-43506610-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43506610
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43506610
    reference: chr 21
allele count: 1
allele frequency: 8.180628272251309e-5
allele num: 12224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.110+1088G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.387+1088G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.603+1088G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.110+1088G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.110+1088G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.603+1088G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.110+1088G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.172+1026G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.111-30G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.387+1088G>A
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

21-43506637-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43506637
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43506637
    reference: chr 21
allele count: 1
allele frequency: 8.132726089785297e-5
allele num: 12296
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.603+1115T>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.387+1115T>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.110+1115T>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.111-3T>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.603+1115T>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.387+1115T>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.110+1115T>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.172+1053T>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.110+1115T>C
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.110+1115T>C
  variant of: http://identifiers.org/hgnc/12560
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
hgvs: c.111-3T>C
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

21-43506649-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43506649
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43506649
    reference: chr 21
allele count: 9
allele frequency: 7.313505607020966e-4
allele num: 12306
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.603+1127G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.172+1065G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.110+1127G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.110+1127G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.120G>A
  hgvsp: ENSP00000418135.1:p.Gly41Arg
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.387+1127G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.603+1127G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.387+1127G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.110+1127G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.110+1127G>A
  variant of: http://identifiers.org/hgnc/12560
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly41Arg
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD

21-43506695-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43506695
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43506695
    reference: chr 21
allele count: 15
allele frequency: 1.216939802044459e-3
allele num: 12326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.110+1173G>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.110+1173G>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.172+1111G>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.603+1173G>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.110+1173G>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.387+1173G>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.387+1173G>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.166G>T
  hgvsp: ENSP00000418135.1:p.Cys56Phe
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.603+1173G>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.110+1173G>T
  variant of: http://identifiers.org/hgnc/12560
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2161
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Cys56Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff

21-43506784-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43506784
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43506784
    reference: chr 21
allele count: 34
allele frequency: 2.813172265431077e-3
allele num: 12086
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.387+1262A>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.172+1200A>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.110+1262A>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.110+1262A>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.603+1262A>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.603+1262A>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.207+48A>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.387+1262A>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.110+1262A>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.110+1262A>T
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 3.75e1
  variant carriers: 4
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: 1309
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1659
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 8.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

21-43508359-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43508359
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43508359
    reference: chr 21
allele count: 3
allele frequency: 2.549372854277847e-5
allele num: 117676
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.208-45C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.111-2049C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.111-45C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.388-45C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.111-45C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.604-45C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.173-45C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.604-45C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.111-45C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.388-45C>T
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3788
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17323
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23572
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

21-43508360-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43508360
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43508360
    reference: chr 21
allele count: 4
allele frequency: 3.396969902846661e-5
allele num: 117752
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.111-44G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.388-44G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.388-44G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.173-44G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.208-44G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.604-44G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.111-2048G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.111-44G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.604-44G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.111-44G>A
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17770
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23751
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

21-43508363-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43508363
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43508363
    reference: chr 21
allele count: 1
allele frequency: 8.470125866070369e-6
allele num: 118062
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.111-41G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.111-41G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.173-41G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.208-41G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.388-41G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.388-41G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.604-41G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.111-41G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.604-41G>A
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.111-2045G>A
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23981
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18458
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6431
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2988
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1957
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP

21-43508363-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43508363
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43508363
    reference: chr 21
allele count: 1
allele frequency: 8.470125866070369e-6
allele num: 118062
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.208-41G>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.604-41G>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.388-41G>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.111-41G>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.173-41G>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.388-41G>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.111-41G>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.111-2045G>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.604-41G>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.111-41G>T
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2988
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18458
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6431
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

21-43508367-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43508367
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43508367
    reference: chr 21
allele count: 2
allele frequency: 1.692362368630371e-5
allele num: 118178
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.604-37C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.604-37C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.388-37C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.111-37C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.111-37C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.173-37C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.111-2041C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.208-37C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.111-37C>T
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.388-37C>T
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6444
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

21-43508372-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43508372
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43508372
    reference: chr 21
allele count: 1
allele frequency: 8.447372867038351e-6
allele num: 118380
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000417444
  ensembl transcript: ENST00000485357
  gene symbol: UMODL1
  hgvsc: ENST00000485357.1:c.111-2036T>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383276
  ensembl transcript: ENST00000400424
  gene symbol: UMODL1
  hgvsc: ENST00000400424.2:c.388-32T>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000420468
  ensembl transcript: ENST00000491559
  gene symbol: UMODL1
  hgvsc: ENST00000491559.1:c.111-32T>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386126
  ensembl transcript: ENST00000408989
  gene symbol: UMODL1
  hgvsc: ENST00000408989.2:c.604-32T>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418848
  ensembl transcript: ENST00000497243
  gene symbol: UMODL1
  hgvsc: ENST00000497243.1:c.173-32T>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000386147
  ensembl transcript: ENST00000408910
  gene symbol: UMODL1
  hgvsc: ENST00000408910.2:c.604-32T>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383279
  ensembl transcript: ENST00000400427
  gene symbol: UMODL1
  hgvsc: ENST00000400427.1:c.388-32T>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000383273
  ensembl transcript: ENST00000400421
  gene symbol: UMODL1
  hgvsc: ENST00000400421.2:c.111-32T>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418417
  ensembl transcript: ENST00000466434
  gene symbol: UMODL1
  hgvsc: ENST00000466434.1:c.111-32T>G
  variant of: http://identifiers.org/hgnc/12560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177398
  ensembl protein: ENSP00000418135
  ensembl transcript: ENST00000468982
  gene symbol: UMODL1
  hgvsc: ENST00000468982.1:c.208-32T>G
  variant of: http://identifiers.org/hgnc/12560
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 114
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1467
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3556
bin: 8.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9186
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64544
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16272
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.076e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

QD
type: SiteQuality
SIO_000300: 1.201e1

DP
type: SiteQuality
SIO_000300: 1.952561e6

VQSLOD
type: SiteQuality
SIO_000300: -1.732e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.27e-1

MQ
type: SiteQuality
SIO_000300: 5.788e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.503e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.753e0

FS
type: SiteQuality
SIO_000300: 2.144e0

GenotypeQuality
all individuals: 1465
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3553
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7276
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9184
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64544
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.737619461337967e-4
allele num: 11510
num of homozygotes: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16268
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.146e0

VQSLOD
type: SiteQuality
SIO_000300: -3.074e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

QD
type: SiteQuality
SIO_000300: 3.31e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.732e0

MQ
type: SiteQuality
SIO_000300: 5.889e1

DP
type: SiteQuality
SIO_000300: 1.952218e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

GenotypeQuality
all individuals: 23747
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9178
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.550628004341758e-5
allele num: 64490
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16234
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.07e-1

FS
type: SiteQuality
SIO_000300: 5.938e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.9e0

MQRankSum
type: SiteQuality
SIO_000300: 7.38e-1

QD
type: SiteQuality
SIO_000300: 1.355e1

DP
type: SiteQuality
SIO_000300: 1.951782e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.08e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

GenotypeQuality
all individuals: 9589
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3526
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23608
bin: 6.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9156
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.105686512003478e-5
allele num: 64398
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.408e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.977e0

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

DP
type: SiteQuality
SIO_000300: 1.943819e6

VQSLOD
type: SiteQuality
SIO_000300: 1.34e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.11e-1

GenotypeQuality
all individuals: 3321
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9511
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2324
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.555693839452396e-5
allele num: 64280
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9090
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16196
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.02e0

QD
type: SiteQuality
SIO_000300: 1.518e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

DP
type: SiteQuality
SIO_000300: 1.933549e6

GenotypeQuality
all individuals: 4590
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2324
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 7330
bin: 9.75e1
variant carriers: 298

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.852309212151148e-4
allele num: 16196
num of homozygotes: 0

Latino
type: Population
allele count: 17
allele frequency: 1.480062685007836e-3
allele num: 11486
num of homozygotes: 0

African
type: Population
allele count: 281
allele frequency: 3.091309130913091e-2
allele num: 9090
num of homozygotes: 4

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.778469197261979e-5
allele num: 64280
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.146788990825688e-3
allele num: 872
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.02e0

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

DP
type: SiteQuality
SIO_000300: 1.933549e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.1e-2

QD
type: SiteQuality
SIO_000300: 1.518e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.78e-1

GenotypeQuality
all individuals: 8069
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 3.427787934186472e-4
allele num: 8752
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63284
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15896
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

FS
type: SiteQuality
SIO_000300: 3.822e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.057e0

QD
type: SiteQuality
SIO_000300: 1.482e1

DP
type: SiteQuality
SIO_000300: 1.809353e6

MQ
type: SiteQuality
SIO_000300: 5.899e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

GenotypeQuality
all individuals: 3382
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2304
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7032
bin: 9.75e1
variant carriers: 2

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.178538507994025e-5
allele num: 62922
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.772576e6

MQ
type: SiteQuality
SIO_000300: 5.94e1

QD
type: SiteQuality
SIO_000300: 1.481e1

MQRankSum
type: SiteQuality
SIO_000300: 4.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e0

GenotypeQuality
all individuals: 3363
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4109
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.281722635221738e-4
allele num: 15604
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.753501400560224e-5
allele num: 11424
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.593320799209713e-5
allele num: 62762
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.754444e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.53e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.07e-1

QD
type: SiteQuality
SIO_000300: 3.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.57e-1

GenotypeQuality
all individuals: 210
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2297
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.59230597751664e-5
allele num: 62802
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15604
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.95e-1

DP
type: SiteQuality
SIO_000300: 1.753041e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

FS
type: SiteQuality
SIO_000300: 2.52e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

QD
type: SiteQuality
SIO_000300: 4.89e0

MQRankSum
type: SiteQuality
SIO_000300: -8.3e-1

GenotypeQuality
all individuals: 5809
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1429
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9732
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15232
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.790436005625879e-5
allele num: 11376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.212232180141981e-5
allele num: 62262
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6418
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

DP
type: SiteQuality
SIO_000300: 1.721505e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.86e-1

QD
type: SiteQuality
SIO_000300: 1.01e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2282
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1266
bin: 7.5e0
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14992
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.615508885298869e-5
allele num: 61900
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11338
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8394
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European (Finnish)
type: Population
allele count: 1
allele frequency: 1.562988433885589e-4
allele num: 6398
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.08e-1

DP
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.625e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.93e-1

FS
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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MQ
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6410
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62034
num of homozygotes: 0

South Asian
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allele count: 3
allele frequency: 1.99203187250996e-4
allele num: 15060
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8404
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African
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allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
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African
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allele frequency: 0.0e0
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South Asian
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allele count: 1
allele frequency: 6.744907594765952e-5
allele num: 14826
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66058
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
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VQSLOD
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DP
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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FS
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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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variant carriers: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66074
num of homozygotes: 0

Latino
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allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

South Asian
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num of homozygotes: 0

FS
type: SiteQuality
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InbreedingCoeff
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DP
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MQ
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VQSLOD
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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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: 66104
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele frequency: 6.686279753944904e-5
allele num: 14956
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Latino
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num of homozygotes: 0

BaseQRankSum
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QD
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ClippingRankSum
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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FS
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 5.934e1

DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66208
num of homozygotes: 0

South Asian
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allele frequency: 6.60414740457007e-5
allele num: 15142
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African
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

FS
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.84e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8620
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Other
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.45244547683572e-5
allele num: 15498
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66332
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Latino
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 15578
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 892
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9780
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.507113576079093e-5
allele num: 66352
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QD
type: SiteQuality
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DP
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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FS
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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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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European (Non-Finnish)
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allele num: 66480
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Latino
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East Asian
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South Asian
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European (Finnish)
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allele num: 6614
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Other
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African
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ClippingRankSum
type: SiteQuality
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VQSLOD
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DP
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QD
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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FS
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MQ
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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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South Asian
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European (Finnish)
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European (Non-Finnish)
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African
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Other
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Latino
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East Asian
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VQSLOD
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ReadPosRankSum
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MQ
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FS
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DP
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MQRankSum
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BaseQRankSum
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QD
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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East Asian
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Latino
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African
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European (Finnish)
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Other
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BaseQRankSum
type: SiteQuality
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QD
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MQ
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FS
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MQRankSum
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DP
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.020616452337212e-4
allele num: 9798
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.49e0

VQSLOD
type: SiteQuality
SIO_000300: 2.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 2.855353e6

FS
type: SiteQuality
SIO_000300: 5.52e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.64e-1

QD
type: SiteQuality
SIO_000300: 1.426e1

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 5007

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5267
bin: 6.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1531
allele frequency: 2.295834208079657e-2
allele num: 66686
num of homozygotes: 29

Latino
type: Population
allele count: 801
allele frequency: 6.921880400967853e-2
allele num: 11572
num of homozygotes: 38

European (Finnish)
type: Population
allele count: 356
allele frequency: 5.382521923193227e-2
allele num: 6614
num of homozygotes: 7

South Asian
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allele count: 921
allele frequency: 5.577761627906977e-2
allele num: 16512
num of homozygotes: 36

East Asian
type: Population
allele count: 1355
allele frequency: 1.572290554653052e-1
allele num: 8618
num of homozygotes: 118

African
type: Population
allele count: 228
allele frequency: 2.327005511328843e-2
allele num: 9798
num of homozygotes: 1

Other
type: Population
allele count: 50
allele frequency: 5.555555555555555e-2
allele num: 900
num of homozygotes: 3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.466e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.47e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

DP
type: SiteQuality
SIO_000300: 3.283216e6

MQRankSum
type: SiteQuality
SIO_000300: 9.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.06e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.66e0

GenotypeQuality
all individuals: 2738
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5895
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23978
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.52e0

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

FS
type: SiteQuality
SIO_000300: 1.212e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 1.367e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

DP
type: SiteQuality
SIO_000300: 2.725135e6

GenotypeQuality
all individuals: 2717
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3980
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variant carriers: 0

GenotypeQuality
all individuals: 46
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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
all individuals: 12
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9
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GenotypeQuality
all individuals: 23978
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4368
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 2.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.974e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.479e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

VQSLOD
type: SiteQuality
SIO_000300: 8.85e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-2

QD
type: SiteQuality
SIO_000300: 1.076e1

DP
type: SiteQuality
SIO_000300: 2.723581e6

GenotypeQuality
all individuals: 44
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3467
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 23976
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variant carriers: 1

GenotypeQuality
all individuals: 141
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 1950
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5849
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 2711
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variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 13809
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variant carriers: 0

GenotypeQuality
all individuals: 4366
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variant carriers: 0

GenotypeQuality
all individuals: 3979
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9766
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66636
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 9.6e0

MQRankSum
type: SiteQuality
SIO_000300: 1.61e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.96e-1

MQ
type: SiteQuality
SIO_000300: 5.876e1

VQSLOD
type: SiteQuality
SIO_000300: -1.229e0

DP
type: SiteQuality
SIO_000300: 2.722418e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.5e-1

GenotypeQuality
all individuals: 13708
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
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variant carriers: 0

GenotypeQuality
all individuals: 42
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 23975
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GenotypeQuality
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GenotypeQuality
all individuals: 50
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GenotypeQuality
all individuals: 1
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GenotypeQuality
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GenotypeQuality
all individuals: 10
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GenotypeQuality
all individuals: 3975
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GenotypeQuality
all individuals: 1948
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.005801196308876e-5
allele num: 66538
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.991e1

FS
type: SiteQuality
SIO_000300: 1.771e0

QD
type: SiteQuality
SIO_000300: 1.103e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.88e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.92e-1

DP
type: SiteQuality
SIO_000300: 2.720275e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.109e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 9.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.7e-1

GenotypeQuality
all individuals: 4355
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 255
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 18

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3466
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1949
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 18
allele frequency: 1.848049281314168e-3
allele num: 9740
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.92e-1

QD
type: SiteQuality
SIO_000300: 1.137e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.85e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.4e0

MQRankSum
type: SiteQuality
SIO_000300: 1.88e-1

DP
type: SiteQuality
SIO_000300: 2.721913e6

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 30
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 58
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GenotypeQuality
all individuals: 19
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GenotypeQuality
all individuals: 11
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GenotypeQuality
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GenotypeQuality
all individuals: 299
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variant carriers: 0

GenotypeQuality
all individuals: 3972
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GenotypeQuality
all individuals: 4352
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GenotypeQuality
all individuals: 5805
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GenotypeQuality
all individuals: 13643
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9726
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66496
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.979e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.69e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.602e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

DP
type: SiteQuality
SIO_000300: 2.718224e6

VQSLOD
type: SiteQuality
SIO_000300: 2.15e-1

QD
type: SiteQuality
SIO_000300: 1.229e1

GenotypeQuality
all individuals: 13627
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4349
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3464
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3968
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 53
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1947
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23966
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5799
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2684
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503759398496241e-5
allele num: 66500
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.028171910343409e-4
allele num: 9726
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.21300339640951e-4
allele num: 16488
num of homozygotes: 1

MQ
type: SiteQuality
SIO_000300: 5.962e1

QD
type: SiteQuality
SIO_000300: 1.458e1

MQRankSum
type: SiteQuality
SIO_000300: 1.43e0

FS
type: SiteQuality
SIO_000300: 3.194e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.35e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.929999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.718005e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.620000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-1

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2671
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4331
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5769
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3962
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1944
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66288
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.835000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.92e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.315e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.892e0

DP
type: SiteQuality
SIO_000300: 2.712642e6

MQ
type: SiteQuality
SIO_000300: 6.01e1

MQRankSum
type: SiteQuality
SIO_000300: 1.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.06e-1

QD
type: SiteQuality
SIO_000300: 1.66e1

GenotypeQuality
all individuals: 99
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3962
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5766
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3464
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1944
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23963
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 643
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2669
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13317
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4330
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.213444970270598e-4
allele num: 16482
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66260
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.82e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 2.686e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.19e-1

QD
type: SiteQuality
SIO_000300: 1.481e1

DP
type: SiteQuality
SIO_000300: 2.711869e6

GenotypeQuality
all individuals: 5766
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 84
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4330
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
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variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3962
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13317
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 57
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1944
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2669
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3464
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23963
bin: 9.75e1
variant carriers: 1

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66260
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 2.711869e6

QD
type: SiteQuality
SIO_000300: 1.481e1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.39e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.686e0

VQSLOD
type: SiteQuality
SIO_000300: 2.55e0

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

GenotypeQuality
all individuals: 66
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12682
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 40
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variant carriers: 0

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

GenotypeQuality
all individuals: 157
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variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4317
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1058
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 149
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variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23961
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3461
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3956
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2649
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516116316443798e-5
allele num: 65958
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9546
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.093e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.69e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.97e0

VQSLOD
type: SiteQuality
SIO_000300: 8.06e-1

FS
type: SiteQuality
SIO_000300: 5.126e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.978e1

DP
type: SiteQuality
SIO_000300: 2.702642e6

GenotypeQuality
all individuals: 3955
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5652
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3462
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 1170
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variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 110
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GenotypeQuality
all individuals: 12551
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variant carriers: 0

GenotypeQuality
all individuals: 159
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variant carriers: 0

GenotypeQuality
all individuals: 76
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variant carriers: 0

GenotypeQuality
all individuals: 43
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GenotypeQuality
all individuals: 40
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2642
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4314
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23961
bin: 9.75e1
variant carriers: 4

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9504
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.553181155900923e-5
allele num: 65888
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.076810889645114e-5
allele num: 16456
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.700122e6

MQRankSum
type: SiteQuality
SIO_000300: 1.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

FS
type: SiteQuality
SIO_000300: 2.762e0

QD
type: SiteQuality
SIO_000300: 1.159e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.976e1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.127e0

GenotypeQuality
all individuals: 161
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1936
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4313
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 3462
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GenotypeQuality
all individuals: 23959
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1172
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.25e1
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GenotypeQuality
all individuals: 12646
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 36
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variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 7.5e0
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GenotypeQuality
all individuals: 5657
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2640
bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 2
allele frequency: 2.104820037886761e-4
allele num: 9502
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.170686022008897e-4
allele num: 8542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518187890933382e-5
allele num: 65868
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.977e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

DP
type: SiteQuality
SIO_000300: 2.699919e6

FS
type: SiteQuality
SIO_000300: 2.838e0

QD
type: SiteQuality
SIO_000300: 1.269e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.15e0

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12072
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4286
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2609
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 223
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GenotypeQuality
all individuals: 176
bin: 3.25e1
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GenotypeQuality
all individuals: 41
bin: 1.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1525
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5543
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3931
bin: 8.25e1
variant carriers: 3

GenotypeQuality
all individuals: 24206
bin: 9.75e1
variant carriers: 1586

GenotypeQuality
all individuals: 1932
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variant carriers: 1

GenotypeQuality
all individuals: 112
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3457
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1246
allele frequency: 1.900317227916056e-2
allele num: 65568
num of homozygotes: 12

Latino
type: Population
allele count: 85
allele frequency: 7.383599722029187e-3
allele num: 11512
num of homozygotes: 1

African
type: Population
allele count: 20
allele frequency: 2.130379207498935e-3
allele num: 9388
num of homozygotes: 0

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

South Asian
type: Population
allele count: 145
allele frequency: 8.818878481936503e-3
allele num: 16442
num of homozygotes: 0

Other
type: Population
allele count: 17
allele frequency: 1.910112359550562e-2
allele num: 890
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 95
allele frequency: 1.438086587950348e-2
allele num: 6606
num of homozygotes: 2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.86e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 1.338e1

MQRankSum
type: SiteQuality
SIO_000300: 1.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.4e0

DP
type: SiteQuality
SIO_000300: 2.825568e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.03e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.525e0

GenotypeQuality
all individuals: 1687
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.084945843981989e-5
allele num: 16434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9368
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.52e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.65e-1

FS
type: SiteQuality
SIO_000300: 1.432e0

DP
type: SiteQuality
SIO_000300: 2.640995e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.054e0

QD
type: SiteQuality
SIO_000300: 1.533e1

GenotypeQuality
all individuals: 4393
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4025
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.076194575979337e-4
allele num: 9292
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65180
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.05e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.835e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.799999999999999e-2

DP
type: SiteQuality
SIO_000300: 2.633797e6

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

GenotypeQuality
all individuals: 114
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variant carriers: 0

GenotypeQuality
all individuals: 119
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 2056
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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.091617933723197e-5
allele num: 16416
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9264
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65106
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.422e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.485e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.45e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.31e-1

DP
type: SiteQuality
SIO_000300: 2.632574e6

FS
type: SiteQuality
SIO_000300: 4.522e0

GenotypeQuality
all individuals: 298
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variant carriers: 0

GenotypeQuality
all individuals: 3564
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variant carriers: 0

GenotypeQuality
all individuals: 219
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GenotypeQuality
all individuals: 122
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GenotypeQuality
all individuals: 5598
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GenotypeQuality
all individuals: 4386
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GenotypeQuality
all individuals: 23183
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GenotypeQuality
all individuals: 116
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GenotypeQuality
all individuals: 47
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GenotypeQuality
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GenotypeQuality
all individuals: 2679
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GenotypeQuality
all individuals: 58
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GenotypeQuality
all individuals: 70
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GenotypeQuality
all individuals: 35
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GenotypeQuality
all individuals: 2096
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GenotypeQuality
all individuals: 11798
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GenotypeQuality
all individuals: 4025
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variant carriers: 0

GenotypeQuality
all individuals: 1972
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.712319219376198e-5
allele num: 11478
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65068
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16410
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.013e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.82e0

MQRankSum
type: SiteQuality
SIO_000300: 1.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.972e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e0

QD
type: SiteQuality
SIO_000300: 1.273e1

DP
type: SiteQuality
SIO_000300: 2.631346e6

GenotypeQuality
all individuals: 5567
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 232
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64912
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.358490566037736e-4
allele num: 8480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9200
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.627176e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-2

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.645e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 2.4939e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.44e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

QD
type: SiteQuality
SIO_000300: 1.304e1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9082
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.548083472660846e-5
allele num: 64596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16366
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: -8.43e-1

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 6.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.68e-1

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.61e-1

GenotypeQuality
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variant carriers: 1

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

Latino
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allele count: 1
allele frequency: 8.729050279329609e-5
allele num: 11456
num of homozygotes: 0

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

East Asian
type: Population
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: 6600
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64508
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.619571e6

VQSLOD
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 5.541e0

MQRankSum
type: SiteQuality
SIO_000300: -3.14e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.91e-1

GenotypeQuality
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variant carriers: 1

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16354
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64518
num of homozygotes: 0

African
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allele frequency: 1.101321585903084e-4
allele num: 9080
num of homozygotes: 0

QD
type: SiteQuality
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FS
type: SiteQuality
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DP
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MQRankSum
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ClippingRankSum
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SIO_000300: 1.17e0

ReadPosRankSum
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SIO_000300: -9.81e-1

BaseQRankSum
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SIO_000300: -2.023e0

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.652e0

GenotypeQuality
all individuals: 1973
bin: 8.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64216
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African
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allele count: 1
allele frequency: 1.110864252388358e-4
allele num: 9002
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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InbreedingCoeff
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SIO_000300: -4.0e-4

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63998
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8444
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8934
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.136475208640157e-5
allele num: 16296
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.048e0

BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 0.0e0

QD
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InbreedingCoeff
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SIO_000300: -7.0e-4

ReadPosRankSum
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MQ
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SIO_000300: 5.955e1

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.44e-1

DP
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SIO_000300: 2.608763e6

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63972
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.185395922238028e-4
allele num: 8436
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8924
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.590000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.563e0

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 2.606413e6

QD
type: SiteQuality
SIO_000300: 1.288e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

South Asian
type: Population
allele count: 111
allele frequency: 6.84424713281539e-3
allele num: 16218
num of homozygotes: 1

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

African
type: Population
allele count: 1
allele frequency: 1.128923007450892e-4
allele num: 8858
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63746
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.73e-1

InbreedingCoeff
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SIO_000300: 1.3e-3

ClippingRankSum
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SIO_000300: -1.09e-1

BaseQRankSum
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SIO_000300: -3.688e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.599454e6

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.471e1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63124
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 858
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East Asian
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allele count: 1
allele frequency: 1.197891710589363e-4
allele num: 8348
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6590
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African
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allele count: 0
allele frequency: 0.0e0
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DP
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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FS
type: SiteQuality
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 7

Latino
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num of homozygotes: 0

African
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allele frequency: 3.479471120389701e-4
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East Asian
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 5
allele frequency: 7.928453634403147e-5
allele num: 63064
num of homozygotes: 0

FS
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ClippingRankSum
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VQSLOD
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QD
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MQ
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
type: SiteQuality
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
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num of homozygotes: 0

South Asian
type: Population
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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 (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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African
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allele count: 5
allele frequency: 5.799118533982835e-4
allele num: 8622
num of homozygotes: 0

Other
type: Population
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FS
type: SiteQuality
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InbreedingCoeff
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MQ
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DP
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2465
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11358
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15968
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8332
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.588663298700473e-5
allele num: 62946
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

QD
type: SiteQuality
SIO_000300: 1.308e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.13e-1

DP
type: SiteQuality
SIO_000300: 2.541007e6

VQSLOD
type: SiteQuality
SIO_000300: 4.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1242
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.588663298700473e-5
allele num: 62946
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8332
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.92e-1

DP
type: SiteQuality
SIO_000300: 2.541007e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.39e-1

QD
type: SiteQuality
SIO_000300: 1.308e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.73e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.200768491834774e-4
allele num: 8328
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62668
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.209e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

QD
type: SiteQuality
SIO_000300: 1.581e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.55e-1

DP
type: SiteQuality
SIO_000300: 2.528873e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8390
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.229244033971647e-5
allele num: 61934
num of homozygotes: 0

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

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

East Asian
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: 6576
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.428e0

MQ
type: SiteQuality
SIO_000300: 5.841e1

DP
type: SiteQuality
SIO_000300: 2.512588e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -9.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.531e0

QD
type: SiteQuality
SIO_000300: 3.424e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.286e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1897
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 7

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 127
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.951527924130664e-4
allele num: 7592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.136363636363636e-3
allele num: 3520
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.005e0

FS
type: SiteQuality
SIO_000300: 5.471e0

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.72219e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.68e-2

QD
type: SiteQuality
SIO_000300: 1.241e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.13e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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

South Asian
type: Population
allele count: 2
allele frequency: 2.632271650434325e-4
allele num: 7598
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3528
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.62e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

VQSLOD
type: SiteQuality
SIO_000300: -1.972e0

MQRankSum
type: SiteQuality
SIO_000300: -8.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.11e-1

QD
type: SiteQuality
SIO_000300: 1.2e1

DP
type: SiteQuality
SIO_000300: 1.72783e5

MQ
type: SiteQuality
SIO_000300: 5.833e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.831257078142696e-4
allele num: 3532
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.75021e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.42e-2

FS
type: SiteQuality
SIO_000300: 4.477e0

MQRankSum
type: SiteQuality
SIO_000300: 5.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.05e-1

QD
type: SiteQuality
SIO_000300: 1.507e1

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3536
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.314060446780552e-4
allele num: 7610
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: -2.123e0

MQRankSum
type: SiteQuality
SIO_000300: -2.33e-1

VQSLOD
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QD
type: SiteQuality
SIO_000300: 1.714e1

MQ
type: SiteQuality
SIO_000300: 5.972e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.47e-2

DP
type: SiteQuality
SIO_000300: 1.78004e5

BaseQRankSum
type: SiteQuality
SIO_000300: 5.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2152
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2891
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 537
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1087
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.312335958005249e-4
allele num: 7620
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3598
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.742e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.06e-1

DP
type: SiteQuality
SIO_000300: 1.81672e5

VQSLOD
type: SiteQuality
SIO_000300: -1.605e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.51e-2

FS
type: SiteQuality
SIO_000300: 8.574999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

MQRankSum
type: SiteQuality
SIO_000300: 9.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.99e-1

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2161
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 216
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1092
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 459
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2902
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 9.75e1
variant carriers: 9

South Asian
type: Population
allele count: 4
allele frequency: 5.249343832020997e-4
allele num: 7620
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 2.525252525252525e-2
allele num: 198
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3610
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.931e1

MQRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.15e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

DP
type: SiteQuality
SIO_000300: 1.82339e5

QD
type: SiteQuality
SIO_000300: 1.207e1

GenotypeQuality
all individuals: 456
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 176
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2909
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1089
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 87
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 216
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3624
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7620
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 5.319148936170213e-3
allele num: 188
num of homozygotes: 0

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

African
type: Population
allele count: 14
allele frequency: 2.5e-2
allele num: 560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

DP
type: SiteQuality
SIO_000300: 1.82771e5

QD
type: SiteQuality
SIO_000300: 1.069e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.6e-2

MQ
type: SiteQuality
SIO_000300: 5.983e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.062e0

FS
type: SiteQuality
SIO_000300: 5.045e0

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.28e-2

GenotypeQuality
all individuals: 200
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 95
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 826
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1429
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 155
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 824
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 389
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 506
bin: 7.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 288
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 9.75e1
variant carriers: 33

GenotypeQuality
all individuals: 379
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 269
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 26
allele frequency: 7.432818753573471e-3
allele num: 3498
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 6.598046978094484e-4
allele num: 7578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 5.681818181818182e-3
allele num: 176
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 7.692307692307693e-3
allele num: 130
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.953125e-3
allele num: 512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 1.232e0

QD
type: SiteQuality
SIO_000300: 1.233e1

DP
type: SiteQuality
SIO_000300: 1.73364e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.31e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.38e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.26e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.97e0

GenotypeQuality
all individuals: 7108
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1356
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1635
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1983
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 958
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 893
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1059
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35556
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1543
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1507
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2070
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2029
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 993
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.030502885408079e-4
allele num: 9704
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.695652173913044e-5
allele num: 11500
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524111443028714e-5
allele num: 65612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14836
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.52e-1

DP
type: SiteQuality
SIO_000300: 1.557742e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.477e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.03e0

MQ
type: SiteQuality
SIO_000300: 5.884e1

QD
type: SiteQuality
SIO_000300: 1.266e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.87e-1

GenotypeQuality
all individuals: 364
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1344
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7129
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36527
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1513
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 897
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1966
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1328
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1988
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 969
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2059
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 890
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.049431281066081e-5
allele num: 65586
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.337792642140468e-4
allele num: 14950
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9700
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.547e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.92e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.498e0

QD
type: SiteQuality
SIO_000300: 2.86e1

MQRankSum
type: SiteQuality
SIO_000300: -3.47e-1

DP
type: SiteQuality
SIO_000300: 1.562229e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.23e-1

GenotypeQuality
all individuals: 364
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1348
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1250
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 813
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1559
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1959
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37783
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 970
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2053
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 722
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7198
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 957
bin: 8.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15062
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521190179196203e-5
allele num: 65738
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9712
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.976e0

VQSLOD
type: SiteQuality
SIO_000300: -5.343e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

QD
type: SiteQuality
SIO_000300: 8.52e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-2

DP
type: SiteQuality
SIO_000300: 1.567302e6

GenotypeQuality
all individuals: 1250
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2053
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 308
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1959
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 813
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1559
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7198
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 449
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 970
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 722
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1348
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1957
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 957
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37783
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15062
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9712
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521190179196203e-5
allele num: 65738
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.52e0

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.976e0

DP
type: SiteQuality
SIO_000300: 1.567302e6

VQSLOD
type: SiteQuality
SIO_000300: -5.343e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

GenotypeQuality
all individuals: 55
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 942
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1498
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1938
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1089
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1129
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2051
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 53
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39268
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1933
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7295
bin: 6.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.323626737260093e-4
allele num: 15110
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65770
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9720
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.505e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

QD
type: SiteQuality
SIO_000300: 1.303e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.73e-1

DP
type: SiteQuality
SIO_000300: 1.577256e6

MQRankSum
type: SiteQuality
SIO_000300: 4.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.087e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e0