1-45477891-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45477891
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45477891
    reference: chr 1
allele count: 3
allele frequency: 2.475451769948015e-5
allele num: 121190
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.35A>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.-47A>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.4A>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.58A>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.8A>T
  variant of: http://identifiers.org/hgnc/12591
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11275
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3352
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2665
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7207
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41897
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-45477902-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45477902
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45477902
    reference: chr 1
allele count: 14
allele frequency: 1.154182261867467e-4
allele num: 121298
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.69A>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.-36A>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.46A>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.19A>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.15A>G
  variant of: http://identifiers.org/hgnc/12591
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5307
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2677
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3364
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41939
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-45477903-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45477903
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45477903
    reference: chr 1
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.-35T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.16T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.47T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.70T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.20T>C
  variant of: http://identifiers.org/hgnc/12591
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3363
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 884
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7215
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD

1-45477904-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45477904
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45477904
    reference: chr 1
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.17T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.71T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.21T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.-34T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.48T>C
  variant of: http://identifiers.org/hgnc/12591
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3363
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2677
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD

1-45477906-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45477906
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45477906
    reference: chr 1
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.23T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.50T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.19T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.73T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.-32T>C
  variant of: http://identifiers.org/hgnc/12591
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41955
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7217
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2676
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41963
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1280
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

1-45477910-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45477910
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45477910
    reference: chr 1
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.23T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.-28T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.77T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.27T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.54T>C
  variant of: http://identifiers.org/hgnc/12591
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5312
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3365
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
  all individuals: 2678
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genotype quality: GenotypeQuality
  all individuals: 2254
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genotype quality: GenotypeQuality
  all individuals: 41977
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

1-45477915-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45477915
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45477915
    reference: chr 1
allele count: 2
allele frequency: 1.648261084555794e-5
allele num: 121340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.82C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.-23C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.59C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.28C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.32C>T
  variant of: http://identifiers.org/hgnc/12591
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
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  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 41976
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

1-45477917-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45477917
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45477917
    reference: chr 1
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.84C>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.-21C>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.61C>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.34C>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.30C>G
  variant of: http://identifiers.org/hgnc/12591
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5318
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genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
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genotype depth: GenotypeDepth
  all individuals: 444
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 46
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genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2682
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genotype quality: GenotypeQuality
  all individuals: 883
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2253
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

1-45477921-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45477921
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45477921
    reference: chr 1
allele count: 3
allele frequency: 2.471739775236463e-5
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.-17G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.65G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.-17G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.88G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.38G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.34G>A
  variant of: http://identifiers.org/hgnc/12591
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11360
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2686
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7231
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum

1-45477927-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45477927
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45477926
    reference: chr 1
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.5delA
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.72delA
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.-10delA
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.-10delA
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.41delA
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.45delA
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.95delA
  variant of: http://identifiers.org/hgnc/12591
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2687
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7233
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: GA
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

1-45477929-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45477929
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45477929
    reference: chr 1
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.42C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.46C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.6C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.96C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.-9C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.73C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.-9C>T
  variant of: http://identifiers.org/hgnc/12591
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7229
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3369
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

1-45477932-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45477932
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45477932
    reference: chr 1
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.-6C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.-6C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.49C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.45C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.99C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.76C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.9C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.3C>T
  variant of: http://identifiers.org/hgnc/12591
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41944
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2684
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ

1-45477934-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45477934
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45477934
    reference: chr 1
allele count: 2
allele frequency: 1.647799363949445e-5
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.-4G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.78G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.-4G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.101G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.5G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.47G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.51G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.11G>A
  variant of: http://identifiers.org/hgnc/12591
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41942
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42003
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/1-45477935-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45477935
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45477935
    reference: chr 1
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.12A>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.6A>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.48A>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.79A>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.-3A>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.52A>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.-3A>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.102A>C
  variant of: http://identifiers.org/hgnc/12591
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2683
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42002
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

1-45477936-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45477936
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45477936
    reference: chr 1
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.13C>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.80C>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.49C>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.53C>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.-2C>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.103C>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.-2C>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.7C>G
  variant of: http://identifiers.org/hgnc/12591
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2253
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

1-45477940-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45477940
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45477940
    reference: chr 1
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.57G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.3G>A
  hgvsp: ENSP00000246337.4:p.Met1?
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.17G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.1G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.107G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.53G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.84G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.11G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.4G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.1G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.3G>A
  hgvsp: ENSP00000404489.1:p.Met1?
  variant of: http://identifiers.org/hgnc/12591
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum

1-45477946-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45477946
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45477946
    reference: chr 1
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.113G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.23G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.9G>A
  hgvsp: ENST00000246337.4:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.7G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.9G>A
  hgvsp: ENST00000434478.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.63G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.7G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.90G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.10G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.17G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.59G>A
  variant of: http://identifiers.org/hgnc/12591
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41932
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11373
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala3Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ

1-45477957-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45477957
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45477957
    reference: chr 1
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.20G>T
  hgvsp: ENSP00000404489.1:p.Gly7Val
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.70G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.28G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.18G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.74G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.101G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.21G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.34G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.18G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.20G>T
  hgvsp: ENSP00000246337.4:p.Gly7Val
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.124G>T
  variant of: http://identifiers.org/hgnc/12591
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11380
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly7Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

1-45477958-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45477958
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45477958
    reference: chr 1
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.70+1G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.20+1G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.124+1G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.18+1G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.21+1G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.18+1G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.34+1G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.28+1G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.20+1G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.101+1G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.74+1G>A
  variant of: http://identifiers.org/hgnc/12591
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 9.75e1
  variant carriers: 1
hgvs: c.20+1G>A
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

1-45477958-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45477958
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45477958
    reference: chr 1
allele count: 2
allele frequency: 1.647799363949445e-5
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.34+1G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.28+1G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.70+1G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.20+1G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.20+1G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.101+1G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.18+1G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.21+1G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.74+1G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.124+1G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.18+1G>T
  variant of: http://identifiers.org/hgnc/12591
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 41918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5323
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: c.20+1G>T
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

1-45477964-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45477964
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45477964
    reference: chr 1
allele count: 2
allele frequency: 1.647907980818351e-5
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.20+7T>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.28+7T>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.124+7T>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.70+7T>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.74+7T>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.21+7T>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.18+7T>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.101+7T>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.34+7T>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.20+7T>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.18+7T>A
  variant of: http://identifiers.org/hgnc/12591
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11380
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.20+7T>A
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

1-45477965-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45477965
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45477965
    reference: chr 1
allele count: 2
allele frequency: 1.647935137272997e-5
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.34+8C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.18+8C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.101+8C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.21+8C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.20+8C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.74+8C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.70+8C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.124+8C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.18+8C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.20+8C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.28+8C>T
  variant of: http://identifiers.org/hgnc/12591
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.20+8C>T
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/1-45477967-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45477967
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45477967
    reference: chr 1
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.20+10C>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.124+10C>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.101+10C>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.74+10C>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.28+10C>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.34+10C>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.70+10C>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.21+10C>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.18+10C>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.20+10C>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.18+10C>A
  variant of: http://identifiers.org/hgnc/12591
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41888
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

1-45477968-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45477968
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45477968
    reference: chr 1
allele count: 2
allele frequency: 1.647880825258717e-5
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.18+11C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.124+11C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.74+11C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.20+11C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.34+11C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.70+11C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.101+11C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.18+11C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.21+11C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.20+11C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.28+11C>T
  variant of: http://identifiers.org/hgnc/12591
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

1-45477971-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45477971
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45477971
    reference: chr 1
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.18+14A>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.124+14A>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.28+14A>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.18+14A>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.70+14A>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.74+14A>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.101+14A>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.20+14A>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.34+14A>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.21+14A>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.20+14A>G
  variant of: http://identifiers.org/hgnc/12591
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

1-45477972-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45477972
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45477972
    reference: chr 1
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.18+15G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.101+15G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.70+15G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.21+15G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.34+15G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.28+15G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.124+15G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.18+15G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.20+15G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.74+15G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.20+15G>C
  variant of: http://identifiers.org/hgnc/12591
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

1-45477973-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45477973
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45477973
    reference: chr 1
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.21+16C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.18+16C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.28+16C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.101+16C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.74+16C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.70+16C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.124+16C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.20+16C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.18+16C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.20+16C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.34+16C>T
  variant of: http://identifiers.org/hgnc/12591
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11380
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

1-45477989-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45477989
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45477989
    reference: chr 1
allele count: 3
allele frequency: 2.472350876036327e-5
allele num: 121342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.20+32C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.21+32C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.18+32C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.101+32C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.34+32C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.70+32C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.28+32C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.74+32C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.124+32C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.20+32C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.18+32C>T
  variant of: http://identifiers.org/hgnc/12591
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

1-45477992-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45477992
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45477992
    reference: chr 1
allele count: 13
allele frequency: 1.071246106432421e-4
allele num: 121354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.18+35G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.101+35G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.124+35G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.74+35G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.21+35G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.20+35G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.20+35G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.18+35G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.28+35G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.70+35G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.34+35G>A
  variant of: http://identifiers.org/hgnc/12591
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11343
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5341
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD

1-45477996-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45477996
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45477996
    reference: chr 1
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.18+39T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.34+39T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.124+39T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.20+39T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.70+39T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.20+39T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.101+39T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.28+39T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.74+39T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.21+39T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.18+39T>C
  variant of: http://identifiers.org/hgnc/12591
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41574
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2252
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP

1-45478485-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45478485
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45478485
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 35532
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000469548
  gene symbol: UROD
  hgvsc: ENST00000469548.1:n.123C>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.71-44C>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.102-94C>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.19-94C>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.21-94C>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000486699
  gene symbol: UROD
  hgvsc: ENST00000486699.1:n.28C>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.22-44C>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.29-94C>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.125-44C>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.21-94C>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.75-44C>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.35-44C>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.19-94C>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000478467
  gene symbol: UROD
  hgvsc: ENST00000478467.1:n.10C>G
  variant of: http://identifiers.org/hgnc/12591
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14510
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9457
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

1-45478493-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45478493
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45478493
    reference: chr 1
allele count: 1
allele frequency: 2.657595407675135e-5
allele num: 37628
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.29-86G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.102-86G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.21-86G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000469548
  gene symbol: UROD
  hgvsc: ENST00000469548.1:n.131G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.71-36G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.125-36G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.35-36G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.19-86G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.75-36G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000486699
  gene symbol: UROD
  hgvsc: ENST00000486699.1:n.36G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.21-86G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000478467
  gene symbol: UROD
  hgvsc: ENST00000478467.1:n.18G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.19-86G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.22-36G>T
  variant of: http://identifiers.org/hgnc/12591
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10037
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

1-45478505-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45478505
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45478506
    reference: chr 1
allele count: 2
allele frequency: 4.718984474541079e-5
allele num: 42382
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.71-22dupT
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.19-72dupT
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.35-22dupT
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.22-22dupT
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000486699
  gene symbol: UROD
  hgvsc: ENST00000486699.1:n.50dupT
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.125-22dupT
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.21-72dupT
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000478467
  gene symbol: UROD
  hgvsc: ENST00000478467.1:n.32dupT
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.29-72dupT
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000469548
  gene symbol: UROD
  hgvsc: ENST00000469548.1:n.145dupT
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.19-72dupT
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.21-72dupT
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.102-72dupT
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.75-22dupT
  variant of: http://identifiers.org/hgnc/12591
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31536
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6993
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3731
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

1-45478508-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45478508
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45478508
    reference: chr 1
allele count: 2
allele frequency: 4.575821359934108e-5
allele num: 43708
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.29-71A>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.22-21A>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.71-21A>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.75-21A>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000486699
  gene symbol: UROD
  hgvsc: ENST00000486699.1:n.51A>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.19-71A>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000469548
  gene symbol: UROD
  hgvsc: ENST00000469548.1:n.146A>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.19-71A>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.102-71A>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000478467
  gene symbol: UROD
  hgvsc: ENST00000478467.1:n.33A>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.21-71A>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.125-21A>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.21-71A>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.35-21A>T
  variant of: http://identifiers.org/hgnc/12591
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5875
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31957
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-45478509-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45478509
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45478509
    reference: chr 1
allele count: 1
allele frequency: 2.263775071308915e-5
allele num: 44174
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.102-70T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000486699
  gene symbol: UROD
  hgvsc: ENST00000486699.1:n.52T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000478467
  gene symbol: UROD
  hgvsc: ENST00000478467.1:n.34T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.19-70T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.29-70T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.75-20T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.19-70T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000469548
  gene symbol: UROD
  hgvsc: ENST00000469548.1:n.147T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.71-20T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.35-20T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.21-70T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.21-70T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.22-20T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.125-20T>C
  variant of: http://identifiers.org/hgnc/12591
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4919
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5556
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9897
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32006
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

1-45478516-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45478516
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45478516
    reference: chr 1
allele count: 1
allele frequency: 2.022899219160901e-5
allele num: 49434
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.19-63G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.125-13G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.22-13G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.21-63G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.102-63G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000486699
  gene symbol: UROD
  hgvsc: ENST00000486699.1:n.59G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.19-63G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.21-63G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.29-63G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.75-13G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000478467
  gene symbol: UROD
  hgvsc: ENST00000478467.1:n.41G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.35-13G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000469548
  gene symbol: UROD
  hgvsc: ENST00000469548.1:n.154G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.71-13G>C
  variant of: http://identifiers.org/hgnc/12591
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

1-45478517-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45478517
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45478517
    reference: chr 1
allele count: 1
allele frequency: 1.959708395390766e-5
allele num: 51028
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.102-62C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.29-62C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000469548
  gene symbol: UROD
  hgvsc: ENST00000469548.1:n.155C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.19-62C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000478467
  gene symbol: UROD
  hgvsc: ENST00000478467.1:n.42C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.125-12C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.22-12C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000486699
  gene symbol: UROD
  hgvsc: ENST00000486699.1:n.60C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.19-62C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.71-12C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.21-62C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.21-62C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.35-12C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.75-12C>T
  variant of: http://identifiers.org/hgnc/12591
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30847
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9555
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

1-45478525-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45478525
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45478525
    reference: chr 1
allele count: 2
allele frequency: 3.255738238645613e-5
allele num: 61430
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.71-4C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000478467
  gene symbol: UROD
  hgvsc: ENST00000478467.1:n.50C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000486699
  gene symbol: UROD
  hgvsc: ENST00000486699.1:n.68C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000469548
  gene symbol: UROD
  hgvsc: ENST00000469548.1:n.163C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.22-4C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.19-54C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.35-4C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.21-54C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.125-4C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.75-4C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.21-54C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.19-54C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.102-54C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.29-54C>T
  variant of: http://identifiers.org/hgnc/12591
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8115
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: n.22-4C>T
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

1-45478526-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45478526
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45478526
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 63100
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.29-53C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.75-3C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.71-3C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.22-3C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.21-53C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.19-53C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.19-53C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.125-3C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000478467
  gene symbol: UROD
  hgvsc: ENST00000478467.1:n.51C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000469548
  gene symbol: UROD
  hgvsc: ENST00000469548.1:n.164C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000486699
  gene symbol: UROD
  hgvsc: ENST00000486699.1:n.69C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.35-3C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.102-53C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.21-53C>T
  variant of: http://identifiers.org/hgnc/12591
canonical: false
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 7987
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26774
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: n.22-3C>T
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: C
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

1-45478531-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45478531
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45478531
    reference: chr 1
allele count: 1
allele frequency: 1.398797034550287e-5
allele num: 71490
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000478467
  gene symbol: UROD
  hgvsc: ENST00000478467.1:n.56T>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.102-48T>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.37T>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.77T>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.21-48T>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.19-48T>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.29-48T>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.24T>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.73T>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.127T>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000469548
  gene symbol: UROD
  hgvsc: ENST00000469548.1:n.169T>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000486699
  gene symbol: UROD
  hgvsc: ENST00000486699.1:n.74T>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.19-48T>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.21-48T>G
  variant of: http://identifiers.org/hgnc/12591
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6990
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23394
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: n.24T>G
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

1-45478535-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45478535
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45478535
    reference: chr 1
allele count: 1
allele frequency: 1.288693007551741e-5
allele num: 77598
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000486699
  gene symbol: UROD
  hgvsc: ENST00000486699.1:n.78G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.41G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.19-44G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.21-44G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.19-44G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.28G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.21-44G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000478467
  gene symbol: UROD
  hgvsc: ENST00000478467.1:n.60G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.29-44G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000469548
  gene symbol: UROD
  hgvsc: ENST00000469548.1:n.173G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.77G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.131G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.102-44G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.81G>T
  variant of: http://identifiers.org/hgnc/12591
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21754
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-45478536-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45478536
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45478536
    reference: chr 1
allele count: 1
allele frequency: 1.255618894553125e-5
allele num: 79642
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.29-43C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.42C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.21-43C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.82C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.132C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.102-43C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.19-43C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000486699
  gene symbol: UROD
  hgvsc: ENST00000486699.1:n.79C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.29C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000469548
  gene symbol: UROD
  hgvsc: ENST00000469548.1:n.174C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.78C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.19-43C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000478467
  gene symbol: UROD
  hgvsc: ENST00000478467.1:n.61C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.21-43C>T
  variant of: http://identifiers.org/hgnc/12591
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19673
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22741
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5920
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

1-45478537-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45478537
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45478537
    reference: chr 1
allele count: 1
allele frequency: 1.223361307528566e-5
allele num: 81742
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.21-42G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.30G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000486699
  gene symbol: UROD
  hgvsc: ENST00000486699.1:n.80G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000478467
  gene symbol: UROD
  hgvsc: ENST00000478467.1:n.62G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.29-42G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.43G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.19-42G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000469548
  gene symbol: UROD
  hgvsc: ENST00000469548.1:n.175G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.133G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.79G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.102-42G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.83G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.19-42G>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.21-42G>T
  variant of: http://identifiers.org/hgnc/12591
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18543
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4286
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

1-45478540-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45478540
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45478540
    reference: chr 1
allele count: 5
allele frequency: 5.715722810306591e-5
allele num: 87478
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.86G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000486699
  gene symbol: UROD
  hgvsc: ENST00000486699.1:n.83G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000478467
  gene symbol: UROD
  hgvsc: ENST00000478467.1:n.65G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000469548
  gene symbol: UROD
  hgvsc: ENST00000469548.1:n.178G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.21-39G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.136G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.82G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.21-39G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.33G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.46G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.29-39G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.19-39G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.19-39G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.102-39G>C
  variant of: http://identifiers.org/hgnc/12591
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16041
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-45478549-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45478549
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45478550
    reference: chr 1
allele count: 1
allele frequency: 9.983427510332847e-6
allele num: 100166
alternate allele: CA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.21-29dupA
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.56dupA
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.19-29dupA
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000478467
  gene symbol: UROD
  hgvsc: ENST00000478467.1:n.75dupA
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.96dupA
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.21-29dupA
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000486699
  gene symbol: UROD
  hgvsc: ENST00000486699.1:n.93dupA
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.29-29dupA
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000469548
  gene symbol: UROD
  hgvsc: ENST00000469548.1:n.188dupA
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.43dupA
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.92dupA
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.146dupA
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.102-29dupA
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.19-29dupA
  variant of: http://identifiers.org/hgnc/12591
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD

1-45478551-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45478551
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45478551
    reference: chr 1
allele count: 2
allele frequency: 1.958020050125313e-5
allele num: 102144
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000469548
  gene symbol: UROD
  hgvsc: ENST00000469548.1:n.189C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000478467
  gene symbol: UROD
  hgvsc: ENST00000478467.1:n.76C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.147C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.44C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.57C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.21-28C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.97C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.93C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000486699
  gene symbol: UROD
  hgvsc: ENST00000486699.1:n.94C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.21-28C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.102-28C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.19-28C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.29-28C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.19-28C>T
  variant of: http://identifiers.org/hgnc/12591
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33063
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9232
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

1-45478552-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45478552
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45478552
    reference: chr 1
allele count: 1
allele frequency: 9.685792879005076e-6
allele num: 103244
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.29-27C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000486699
  gene symbol: UROD
  hgvsc: ENST00000486699.1:n.95C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.58C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000469548
  gene symbol: UROD
  hgvsc: ENST00000469548.1:n.190C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.19-27C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.21-27C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.19-27C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.21-27C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.148C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.45C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000478467
  gene symbol: UROD
  hgvsc: ENST00000478467.1:n.77C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.102-27C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.98C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.94C>T
  variant of: http://identifiers.org/hgnc/12591
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8702
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7228
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ

1-45478555-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45478555
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45478555
    reference: chr 1
allele count: 1
allele frequency: 9.471311397776135e-6
allele num: 105582
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.29-24C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.101C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.19-24C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.21-24C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.19-24C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.61C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.97C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.48C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000486699
  gene symbol: UROD
  hgvsc: ENST00000486699.1:n.98C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000469548
  gene symbol: UROD
  hgvsc: ENST00000469548.1:n.193C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000478467
  gene symbol: UROD
  hgvsc: ENST00000478467.1:n.80C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.21-24C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.151C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.102-24C>T
  variant of: http://identifiers.org/hgnc/12591
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7524
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/1-45478560-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45478560
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45478560
    reference: chr 1
allele count: 14
allele frequency: 1.277698682145074e-4
allele num: 109572
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.21-19A>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.106A>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000478467
  gene symbol: UROD
  hgvsc: ENST00000478467.1:n.85A>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.66A>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000469548
  gene symbol: UROD
  hgvsc: ENST00000469548.1:n.198A>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000486699
  gene symbol: UROD
  hgvsc: ENST00000486699.1:n.103A>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.19-19A>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.21-19A>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.156A>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.102-19A>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.102A>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.19-19A>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.53A>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.29-19A>C
  variant of: http://identifiers.org/hgnc/12591
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33483
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4950
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-45478562-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45478562
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45478562
    reference: chr 1
allele count: 31
allele frequency: 2.768846016434441e-4
allele num: 111960
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.102-17C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.68C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.21-17C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.104C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.29-17C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000478467
  gene symbol: UROD
  hgvsc: ENST00000478467.1:n.87C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.21-17C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000469548
  gene symbol: UROD
  hgvsc: ENST00000469548.1:n.200C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.55C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.108C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.19-17C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.158C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000486699
  gene symbol: UROD
  hgvsc: ENST00000486699.1:n.105C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.19-17C>T
  variant of: http://identifiers.org/hgnc/12591
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4539
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10042
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5185
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 33860
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

1-45478567-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45478567
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45478567
    reference: chr 1
allele count: 1
allele frequency: 8.71368571478364e-6
allele num: 114762
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.19-12C>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.73C>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000486699
  gene symbol: UROD
  hgvsc: ENST00000486699.1:n.110C>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.21-12C>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.109C>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.19-12C>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.113C>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.163C>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.60C>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.21-12C>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000469548
  gene symbol: UROD
  hgvsc: ENST00000469548.1:n.205C>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000478467
  gene symbol: UROD
  hgvsc: ENST00000478467.1:n.92C>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.102-12C>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.29-12C>G
  variant of: http://identifiers.org/hgnc/12591
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34703
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10652
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5650
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP

1-45478576-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45478576
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45478576
    reference: chr 1
allele count: 1
allele frequency: 8.489829184636805e-6
allele num: 117788
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.29-3C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.21-3C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000469548
  gene symbol: UROD
  hgvsc: ENST00000469548.1:n.214C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.122C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.102-3C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000478467
  gene symbol: UROD
  hgvsc: ENST00000478467.1:n.101C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.82C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.118C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.69C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.19-3C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.21-3C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.19-3C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000486699
  gene symbol: UROD
  hgvsc: ENST00000486699.1:n.119C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.172C>T
  variant of: http://identifiers.org/hgnc/12591
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.21-3C>T
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-45478580-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45478580
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45478580
    reference: chr 1
allele count: 2
allele frequency: 1.688704257223433e-5
allele num: 118434
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.103C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.73C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000496439
  gene symbol: UROD
  hgvsc: ENST00000496439.1:n.1C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.22C>T
  hgvsp: ENSP00000404489.1:p.Pro8Ser
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.20C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000486699
  gene symbol: UROD
  hgvsc: ENST00000486699.1:n.123C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.176C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.22C>T
  hgvsp: ENSP00000246337.4:p.Pro8Ser
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000478467
  gene symbol: UROD
  hgvsc: ENST00000478467.1:n.105C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000400253
  ensembl transcript: ENST00000428106
  gene symbol: UROD
  hgvsc: ENST00000428106.1:c.2C>T
  hgvsp: ENSP00000400253.1:p.Pro2Ser
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.122C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.86C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.126C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.20C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000469548
  gene symbol: UROD
  hgvsc: ENST00000469548.1:n.218C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.30C>T
  variant of: http://identifiers.org/hgnc/12591
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro8Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/1-45478583-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45478583
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45478583
    reference: chr 1
allele count: 2
allele frequency: 1.684295627568551e-5
allele num: 118744
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000469548
  gene symbol: UROD
  hgvsc: ENST00000469548.1:n.221C>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.25C>A
  hgvsp: ENSP00000404489.1:p.Gln9Lys
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.129C>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.106C>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000496439
  gene symbol: UROD
  hgvsc: ENST00000496439.1:n.4C>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.33C>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000478467
  gene symbol: UROD
  hgvsc: ENST00000478467.1:n.108C>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.23C>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000486699
  gene symbol: UROD
  hgvsc: ENST00000486699.1:n.126C>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.25C>A
  hgvsp: ENSP00000246337.4:p.Gln9Lys
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.89C>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000400253
  ensembl transcript: ENST00000428106
  gene symbol: UROD
  hgvsc: ENST00000428106.1:c.5C>A
  hgvsp: ENSP00000400253.1:p.Gln3Lys
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.23C>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.125C>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.179C>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.76C>A
  variant of: http://identifiers.org/hgnc/12591
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln9Lys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: C
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

1-45478584-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45478584
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45478583
    reference: chr 1
allele count: 1
allele frequency: 8.412551526878102e-6
allele num: 118870
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000496439
  gene symbol: UROD
  hgvsc: ENST00000496439.1:n.8delG
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.37delG
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.133delG
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000400253
  ensembl transcript: ENST00000428106
  gene symbol: UROD
  hgvsc: ENST00000428106.1:c.9delG
  hgvsp: ENSP00000400253.1:p.Gly4ValfsTer5
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.29delG
  hgvsp: ENSP00000246337.4:p.Gly10ValfsTer5
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.27delG
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.93delG
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000478467
  gene symbol: UROD
  hgvsc: ENST00000478467.1:n.112delG
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.29delG
  hgvsp: ENSP00000404489.1:p.Gly10ValfsTer5
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.80delG
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.129delG
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000486699
  gene symbol: UROD
  hgvsc: ENST00000486699.1:n.130delG
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.110delG
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000469548
  gene symbol: UROD
  hgvsc: ENST00000469548.1:n.225delG
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.27delG
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.183delG
  variant of: http://identifiers.org/hgnc/12591
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly10ValfsTer5
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: AG
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

1-45478585-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45478585
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45478585
    reference: chr 1
allele count: 9
allele frequency: 7.566840423743063e-5
allele num: 118940
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.108G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.78G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.35G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.181G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000486699
  gene symbol: UROD
  hgvsc: ENST00000486699.1:n.128G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000478467
  gene symbol: UROD
  hgvsc: ENST00000478467.1:n.110G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000400253
  ensembl transcript: ENST00000428106
  gene symbol: UROD
  hgvsc: ENST00000428106.1:c.7G>C
  hgvsp: ENSP00000400253.1:p.Gln3His
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.127G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.25G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.27G>C
  hgvsp: ENSP00000404489.1:p.Gln9His
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.131G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.27G>C
  hgvsp: ENSP00000246337.4:p.Gln9His
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000496439
  gene symbol: UROD
  hgvsc: ENST00000496439.1:n.6G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.25G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.91G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000469548
  gene symbol: UROD
  hgvsc: ENST00000469548.1:n.223G>C
  variant of: http://identifiers.org/hgnc/12591
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11652
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln9His
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-45478606-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45478606
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45478606
    reference: chr 1
allele count: 1
allele frequency: 8.306475728477921e-6
allele num: 120388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.129T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.202T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.48T>C
  hgvsp: ENST00000246337.4:c.48T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000496439
  gene symbol: UROD
  hgvsc: ENST00000496439.1:n.27T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.99T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.152T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000400253
  ensembl transcript: ENST00000428106
  gene symbol: UROD
  hgvsc: ENST00000428106.1:c.28T>C
  hgvsp: ENST00000428106.1:c.28T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.48T>C
  hgvsp: ENST00000434478.1:c.48T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000478467
  gene symbol: UROD
  hgvsc: ENST00000478467.1:n.131T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.112T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000486699
  gene symbol: UROD
  hgvsc: ENST00000486699.1:n.149T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.46T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.46T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.148T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.56T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000469548
  gene symbol: UROD
  hgvsc: ENST00000469548.1:n.244T>C
  variant of: http://identifiers.org/hgnc/12591
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36206
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn16Asn
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-45478613-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45478613
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45478613
    reference: chr 1
allele count: 2
allele frequency: 1.659640853719255e-5
allele num: 120508
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000469548
  gene symbol: UROD
  hgvsc: ENST00000469548.1:n.251T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.155T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.209T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.136T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000478467
  gene symbol: UROD
  hgvsc: ENST00000478467.1:n.138T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.119T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.55T>C
  hgvsp: ENSP00000246337.4:p.Phe19Leu
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.53T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.53T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.63T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.55T>C
  hgvsp: ENSP00000404489.1:p.Phe19Leu
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000486699
  gene symbol: UROD
  hgvsc: ENST00000486699.1:n.156T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000400253
  ensembl transcript: ENST00000428106
  gene symbol: UROD
  hgvsc: ENST00000428106.1:c.35T>C
  hgvsp: ENSP00000400253.1:p.Phe13Leu
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.106T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.159T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000496439
  gene symbol: UROD
  hgvsc: ENST00000496439.1:n.34T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000473012
  gene symbol: UROD
  hgvsc: ENST00000473012.1:n.7T>C
  variant of: http://identifiers.org/hgnc/12591
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe19Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

1-45478616-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45478616
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45478616
    reference: chr 1
allele count: 1
allele frequency: 8.294212298657997e-6
allele num: 120566
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000496439
  gene symbol: UROD
  hgvsc: ENST00000496439.1:n.37C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.122C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.109C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000486699
  gene symbol: UROD
  hgvsc: ENST00000486699.1:n.159C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.139C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.56C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000478467
  gene symbol: UROD
  hgvsc: ENST00000478467.1:n.141C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000400253
  ensembl transcript: ENST00000428106
  gene symbol: UROD
  hgvsc: ENST00000428106.1:c.38C>T
  hgvsp: ENST00000428106.1:c.38C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.158C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.162C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.58C>T
  hgvsp: ENST00000246337.4:c.58C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000473012
  gene symbol: UROD
  hgvsc: ENST00000473012.1:n.10C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.58C>T
  hgvsp: ENST00000434478.1:c.58C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.66C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.56C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.212C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000469548
  gene symbol: UROD
  hgvsc: ENST00000469548.1:n.254C>T
  variant of: http://identifiers.org/hgnc/12591
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu20Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-45478619-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45478619
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45478619
    reference: chr 1
allele count: 1
allele frequency: 8.291048983517394e-6
allele num: 120612
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000473012
  gene symbol: UROD
  hgvsc: ENST00000473012.1:n.13C>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.161C>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000400253
  ensembl transcript: ENST00000428106
  gene symbol: UROD
  hgvsc: ENST00000428106.1:c.41C>A
  hgvsp: ENST00000428106.1:c.41C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000496439
  gene symbol: UROD
  hgvsc: ENST00000496439.1:n.40C>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.165C>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.61C>A
  hgvsp: ENST00000246337.4:c.61C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.125C>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.112C>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.69C>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.215C>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.59C>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.61C>A
  hgvsp: ENST00000434478.1:c.61C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000478467
  gene symbol: UROD
  hgvsc: ENST00000478467.1:n.144C>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.142C>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000469548
  gene symbol: UROD
  hgvsc: ENST00000469548.1:n.257C>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000486699
  gene symbol: UROD
  hgvsc: ENST00000486699.1:n.162C>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.59C>A
  variant of: http://identifiers.org/hgnc/12591
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6662
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg21Arg
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-45478621-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45478621
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45478621
    reference: chr 1
allele count: 1
allele frequency: 8.285690612312537e-6
allele num: 120690
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000486699
  gene symbol: UROD
  hgvsc: ENST00000486699.1:n.164A>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.71A>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.217A>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.63A>G
  hgvsp: ENST00000246337.4:c.63A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.114A>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.167A>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000496439
  gene symbol: UROD
  hgvsc: ENST00000496439.1:n.42A>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.61A>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.127A>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.63A>G
  hgvsp: ENST00000434478.1:c.63A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000400253
  ensembl transcript: ENST00000428106
  gene symbol: UROD
  hgvsc: ENST00000428106.1:c.43A>G
  hgvsp: ENST00000428106.1:c.43A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000478467
  gene symbol: UROD
  hgvsc: ENST00000478467.1:n.146A>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.144A>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000473012
  gene symbol: UROD
  hgvsc: ENST00000473012.1:n.15A>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000469548
  gene symbol: UROD
  hgvsc: ENST00000469548.1:n.259A>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.61A>G
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.163A>G
  variant of: http://identifiers.org/hgnc/12591
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg21Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum

1-45478628-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45478628
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45478628
    reference: chr 1
allele count: 1
allele frequency: 8.279379377721846e-6
allele num: 120782
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.68T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000478467
  gene symbol: UROD
  hgvsc: ENST00000478467.1:n.153T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.170T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.134T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000473012
  gene symbol: UROD
  hgvsc: ENST00000473012.1:n.22T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000469548
  gene symbol: UROD
  hgvsc: ENST00000469548.1:n.266T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000486699
  gene symbol: UROD
  hgvsc: ENST00000486699.1:n.171T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.151T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.68T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.70T>C
  hgvsp: ENSP00000246337.4:p.Trp24Arg
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.174T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.70T>C
  hgvsp: ENSP00000404489.1:p.Trp24Arg
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.224T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.121T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.78T>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000400253
  ensembl transcript: ENST00000428106
  gene symbol: UROD
  hgvsc: ENST00000428106.1:c.50T>C
  hgvsp: ENSP00000400253.1:p.Trp18Arg
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000496439
  gene symbol: UROD
  hgvsc: ENST00000496439.1:n.49T>C
  variant of: http://identifiers.org/hgnc/12591
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12275
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp24Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

1-45478632-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45478632
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45478632
    reference: chr 1
allele count: 1
allele frequency: 8.275542461808372e-6
allele num: 120838
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.174G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.138G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000486699
  gene symbol: UROD
  hgvsc: ENST00000486699.1:n.175G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000400253
  ensembl transcript: ENST00000428106
  gene symbol: UROD
  hgvsc: ENST00000428106.1:c.54G>A
  hgvsp: ENSP00000400253.1:p.Gly19Glu
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.82G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.125G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000496439
  gene symbol: UROD
  hgvsc: ENST00000496439.1:n.53G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.72G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.228G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000478467
  gene symbol: UROD
  hgvsc: ENST00000478467.1:n.157G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.74G>A
  hgvsp: ENSP00000246337.4:p.Gly25Glu
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.72G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.74G>A
  hgvsp: ENSP00000404489.1:p.Gly25Glu
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.155G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.178G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000473012
  gene symbol: UROD
  hgvsc: ENST00000473012.1:n.26G>A
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000469548
  gene symbol: UROD
  hgvsc: ENST00000469548.1:n.270G>A
  variant of: http://identifiers.org/hgnc/12591
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly25Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-45478638-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45478638
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45478638
    reference: chr 1
allele count: 1
allele frequency: 8.270477702792114e-6
allele num: 120912
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.184A>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000400253
  ensembl transcript: ENST00000428106
  gene symbol: UROD
  hgvsc: ENST00000428106.1:c.60A>C
  hgvsp: ENSP00000400253.1:p.Glu21Ala
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.80A>C
  hgvsp: ENSP00000404489.1:p.Glu27Ala
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.88A>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.161A>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.131A>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.180A>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.234A>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000478467
  gene symbol: UROD
  hgvsc: ENST00000478467.1:n.163A>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.80A>C
  hgvsp: ENSP00000246337.4:p.Glu27Ala
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.78A>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.144A>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000486699
  gene symbol: UROD
  hgvsc: ENST00000486699.1:n.181A>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000473012
  gene symbol: UROD
  hgvsc: ENST00000473012.1:n.32A>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.78A>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000469548
  gene symbol: UROD
  hgvsc: ENST00000469548.1:n.276A>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000496439
  gene symbol: UROD
  hgvsc: ENST00000496439.1:n.59A>C
  variant of: http://identifiers.org/hgnc/12591
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6697
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu27Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS

1-45478638-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45478638
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45478638
    reference: chr 1
allele count: 2
allele frequency: 1.654095540558423e-5
allele num: 120912
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000478467
  gene symbol: UROD
  hgvsc: ENST00000478467.1:n.163A>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000469548
  gene symbol: UROD
  hgvsc: ENST00000469548.1:n.276A>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000496439
  gene symbol: UROD
  hgvsc: ENST00000496439.1:n.59A>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.80A>T
  hgvsp: ENSP00000246337.4:p.Glu27Val
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.78A>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.184A>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.180A>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.144A>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000486699
  gene symbol: UROD
  hgvsc: ENST00000486699.1:n.181A>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.78A>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.161A>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.234A>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.80A>T
  hgvsp: ENSP00000404489.1:p.Glu27Val
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000473012
  gene symbol: UROD
  hgvsc: ENST00000473012.1:n.32A>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.131A>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.88A>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000400253
  ensembl transcript: ENST00000428106
  gene symbol: UROD
  hgvsc: ENST00000428106.1:c.60A>T
  hgvsp: ENSP00000400253.1:p.Glu21Val
  variant of: http://identifiers.org/hgnc/12591
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6697
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu27Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ

1-45478643-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45478643
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45478643
    reference: chr 1
allele count: 5
allele frequency: 4.134623335814107e-5
allele num: 120930
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.83G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.189G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000473012
  gene symbol: UROD
  hgvsc: ENST00000473012.1:n.37G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000478467
  gene symbol: UROD
  hgvsc: ENST00000478467.1:n.168G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.166G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.149G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000400253
  ensembl transcript: ENST00000428106
  gene symbol: UROD
  hgvsc: ENST00000428106.1:c.65G>C
  hgvsp: ENSP00000400253.1:p.Asp23His
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.83G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.85G>C
  hgvsp: ENSP00000246337.4:p.Asp29His
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000496439
  gene symbol: UROD
  hgvsc: ENST00000496439.1:n.64G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.185G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.93G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.85G>C
  hgvsp: ENSP00000404489.1:p.Asp29His
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000486699
  gene symbol: UROD
  hgvsc: ENST00000486699.1:n.186G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.136G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000469548
  gene symbol: UROD
  hgvsc: ENST00000469548.1:n.281G>C
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.239G>C
  variant of: http://identifiers.org/hgnc/12591
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6710
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp29His
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

1-45478650-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45478650
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45478650
    reference: chr 1
allele count: 1
allele frequency: 8.266785708380868e-6
allele num: 120966
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000400253
  ensembl transcript: ENST00000428106
  gene symbol: UROD
  hgvsc: ENST00000428106.1:c.72C>T
  hgvsp: ENSP00000400253.1:p.Thr25Ile
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000494399
  gene symbol: UROD
  hgvsc: ENST00000494399.1:n.156C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000463092
  gene symbol: UROD
  hgvsc: ENST00000463092.1:n.173C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000478467
  gene symbol: UROD
  hgvsc: ENST00000478467.1:n.175C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000404489
  ensembl transcript: ENST00000434478
  gene symbol: UROD
  hgvsc: ENST00000434478.1:c.92C>T
  hgvsp: ENSP00000404489.1:p.Thr31Ile
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000486699
  gene symbol: UROD
  hgvsc: ENST00000486699.1:n.193C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000496439
  gene symbol: UROD
  hgvsc: ENST00000496439.1:n.71C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460906
  gene symbol: UROD
  hgvsc: ENST00000460906.1:n.90C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491773
  gene symbol: UROD
  hgvsc: ENST00000491773.1:n.246C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000491300
  gene symbol: UROD
  hgvsc: ENST00000491300.1:n.192C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126088
  ensembl protein: ENSP00000246337
  ensembl transcript: ENST00000246337
  gene symbol: UROD
  hgvsc: ENST00000246337.4:c.92C>T
  hgvsp: ENSP00000246337.4:p.Thr31Ile
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000460334
  gene symbol: UROD
  hgvsc: ENST00000460334.1:n.100C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000490385
  gene symbol: UROD
  hgvsc: ENST00000490385.1:n.90C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000473012
  gene symbol: UROD
  hgvsc: ENST00000473012.1:n.44C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000461035
  gene symbol: UROD
  hgvsc: ENST00000461035.1:n.196C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000469548
  gene symbol: UROD
  hgvsc: ENST00000469548.1:n.288C>T
  variant of: http://identifiers.org/hgnc/12591
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126088
  ensembl transcript: ENST00000462688
  gene symbol: UROD
  hgvsc: ENST00000462688.1:n.143C>T
  variant of: http://identifiers.org/hgnc/12591
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35947
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr31Ile
num of homozygotes: 0
reference allele: C

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

GenotypeQuality
all individuals: 116
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2244
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 949
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.503693028283192e-5
allele num: 66612
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.275e0

VQSLOD
type: SiteQuality
SIO_000300: 3.89e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

FS
type: SiteQuality
SIO_000300: 4.9e-1

DP
type: SiteQuality
SIO_000300: 1.4745e6

QD
type: SiteQuality
SIO_000300: 1.464e1

MQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.74e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.88e-1

GenotypeQuality
all individuals: 71
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2251
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7214
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1277
bin: 9.75e1
variant carriers: 14

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

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

Latino
type: Population
allele count: 14
allele frequency: 1.210235131396957e-3
allele num: 11568
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.233e0

DP
type: SiteQuality
SIO_000300: 1.477117e6

MQ
type: SiteQuality
SIO_000300: 5.953e1

QD
type: SiteQuality
SIO_000300: 1.437e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.69e0

VQSLOD
type: SiteQuality
SIO_000300: 2.24e0

MQRankSum
type: SiteQuality
SIO_000300: 3.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.3e-2

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41949
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1277
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499925003749813e-5
allele num: 66670
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: 8652
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.476892e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.67e-1

QD
type: SiteQuality
SIO_000300: 1.411e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.379999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
SIO_000300: -4.27e-1

FS
type: SiteQuality
SIO_000300: 6.482e0

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7219
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2250
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41953
bin: 6.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 8.345000000000001e0

DP
type: SiteQuality
SIO_000300: 1.477003e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.42e-1

QD
type: SiteQuality
SIO_000300: 1.344e1

MQ
type: SiteQuality
SIO_000300: 5.59e1

MQRankSum
type: SiteQuality
SIO_000300: 1.79e0

VQSLOD
type: SiteQuality
SIO_000300: -1.071e0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3364
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2252
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499835018148004e-5
allele num: 66674
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.402e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.08e-1

FS
type: SiteQuality
SIO_000300: 3.781e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.12e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

DP
type: SiteQuality
SIO_000300: 1.477243e6

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 7217
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 884
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.919e1

QD
type: SiteQuality
SIO_000300: 1.207e1

FS
type: SiteQuality
SIO_000300: 6.129e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.98e-1

DP
type: SiteQuality
SIO_000300: 1.477706e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.24e-1

GenotypeQuality
all individuals: 7230
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2252
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2680
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3366
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998860433035446e-5
allele num: 66692
num of homozygotes: 0

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.286e0

DP
type: SiteQuality
SIO_000300: 1.478017e6

VQSLOD
type: SiteQuality
SIO_000300: 2.89e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.03e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

QD
type: SiteQuality
SIO_000300: 1.034e1

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

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

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

GenotypeQuality
all individuals: 949
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7230
bin: 6.75e1
variant carriers: 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: 6608
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

MQ
type: SiteQuality
SIO_000300: 5.988e1

FS
type: SiteQuality
SIO_000300: 2.956e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e0

MQRankSum
type: SiteQuality
SIO_000300: -2.3e-2

DP
type: SiteQuality
SIO_000300: 1.4783e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.83e0

QD
type: SiteQuality
SIO_000300: 1.402e1

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

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

GenotypeQuality
all individuals: 1287
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3368
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 949
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41990
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 3
allele frequency: 3.466605038132656e-4
allele num: 8654
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 9.57e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.246e0

DP
type: SiteQuality
SIO_000300: 1.478686e6

FS
type: SiteQuality
SIO_000300: 2.486e0

QD
type: SiteQuality
SIO_000300: 1.312e1

MQRankSum
type: SiteQuality
SIO_000300: -7.0e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.54e-1

FS
type: SiteQuality
SIO_000300: 5.135e0

DP
type: SiteQuality
SIO_000300: 1.478887e6

MQ
type: SiteQuality
SIO_000300: 5.991e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.633e1

GenotypeQuality
all individuals: 1288
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 883
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
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: 908
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.159e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.691e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -5.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.5e-2

DP
type: SiteQuality
SIO_000300: 1.478938e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.860000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.31e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

QD
type: SiteQuality
SIO_000300: 9.359999999999999e0

GenotypeQuality
all individuals: 882
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.302e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.244e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.128e0

MQRankSum
type: SiteQuality
SIO_000300: -1.32e0

DP
type: SiteQuality
SIO_000300: 1.479013e6

FS
type: SiteQuality
SIO_000300: 4.084e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3370
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2683
bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.6e-1

QD
type: SiteQuality
SIO_000300: 1.052e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.264e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.553e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

VQSLOD
type: SiteQuality
SIO_000300: 5.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.479102e6

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 882
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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: 908
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.244e0

MQRankSum
type: SiteQuality
SIO_000300: 5.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.41e0

VQSLOD
type: SiteQuality
SIO_000300: 2.28e0

DP
type: SiteQuality
SIO_000300: 1.479127e6

QD
type: SiteQuality
SIO_000300: 8.57e0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
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: 908
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

DP
type: SiteQuality
SIO_000300: 1.479153e6

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

QD
type: SiteQuality
SIO_000300: 1.065e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.06e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

QD
type: SiteQuality
SIO_000300: 1.217e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -5.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 2.921e0

DP
type: SiteQuality
SIO_000300: 1.479275e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.14e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.168e1

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.21e0

DP
type: SiteQuality
SIO_000300: 1.479302e6

MQ
type: SiteQuality
SIO_000300: 5.952e1

GenotypeDepth
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bin: 7.25e1
variant carriers: 0

GenotypeDepth
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bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

South Asian
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African
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Other
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East Asian
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Latino
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European (Finnish)
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ClippingRankSum
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MQ
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FS
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DP
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InbreedingCoeff
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BaseQRankSum
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QD
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MQRankSum
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ReadPosRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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East Asian
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European (Finnish)
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European (Non-Finnish)
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Latino
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African
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InbreedingCoeff
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ClippingRankSum
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FS
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DP
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ReadPosRankSum
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BaseQRankSum
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QD
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MQRankSum
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VQSLOD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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European (Non-Finnish)
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South Asian
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African
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European (Finnish)
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Other
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VQSLOD
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MQ
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FS
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ReadPosRankSum
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BaseQRankSum
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QD
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DP
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 10398
num of homozygotes: 0

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

Other
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Latino
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East Asian
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European (Non-Finnish)
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BaseQRankSum
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FS
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ClippingRankSum
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DP
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MQ
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MQRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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Latino
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European (Non-Finnish)
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African
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European (Finnish)
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East Asian
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QD
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VQSLOD
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InbreedingCoeff
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FS
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ClippingRankSum
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MQRankSum
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MQ
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ReadPosRankSum
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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Latino
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African
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East Asian
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European (Non-Finnish)
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DP
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QD
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MQ
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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Other
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European (Non-Finnish)
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African
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European (Finnish)
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South Asian
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DP
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MQ
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FS
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

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

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

East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
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SIO_000300: -7.38e-1

MQ
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SIO_000300: 5.92e1

QD
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InbreedingCoeff
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SIO_000300: 0.0e0

FS
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SIO_000300: 8.4e-1

MQRankSum
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SIO_000300: -5.81e-1

ReadPosRankSum
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SIO_000300: 1.97e0

BaseQRankSum
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SIO_000300: -1.344e0

VQSLOD
type: SiteQuality
SIO_000300: -4.848e-1

DP
type: SiteQuality
SIO_000300: 1.479871e6

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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GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Other
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

QD
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VQSLOD
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DP
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FS
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MQ
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SIO_000300: 5.919e1

BaseQRankSum
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SIO_000300: -4.554e0

ClippingRankSum
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SIO_000300: -6.08e-1

MQRankSum
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InbreedingCoeff
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SIO_000300: 0.0e0

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

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

South Asian
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allele num: 16512
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Other
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
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allele num: 66702
num of homozygotes: 0

Latino
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East Asian
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African
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.54e-1

MQ
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DP
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InbreedingCoeff
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ClippingRankSum
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FS
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MQRankSum
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VQSLOD
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QD
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BaseQRankSum
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SIO_000300: -2.45e0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

South Asian
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allele frequency: 7.267441860465116e-4
allele num: 16512
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

MQRankSum
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SIO_000300: 4.13e-1

BaseQRankSum
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SIO_000300: 4.58e-1

QD
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ClippingRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
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FS
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MQ
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SIO_000300: 5.977e1

VQSLOD
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SIO_000300: 1.13e0

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

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

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

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

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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Latino
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num of homozygotes: 0

Other
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num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.404e1

ClippingRankSum
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MQ
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SIO_000300: 5.936e1

MQRankSum
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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FS
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DP
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GenotypeDepth
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variant carriers: 3

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1324
num of homozygotes: 0

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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num of homozygotes: 0

South Asian
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East Asian
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African
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Other
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FS
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MQ
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DP
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ReadPosRankSum
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QD
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

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

East Asian
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allele frequency: 0.0e0
allele num: 2292
num of homozygotes: 0

African
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Latino
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European (Finnish)
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European (Non-Finnish)
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num of homozygotes: 0

South Asian
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Other
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DP
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MQRankSum
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QD
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InbreedingCoeff
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FS
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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MQ
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GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 9.359790340696369e-5
allele num: 21368
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
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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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10198
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 7.20818e5

ClippingRankSum
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VQSLOD
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FS
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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MQRankSum
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SIO_000300: -5.4e-2

QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 5.170630816959669e-4
allele num: 3868
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 22164
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1822
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

InbreedingCoeff
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SIO_000300: -1.56e-2

FS
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QD
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VQSLOD
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BaseQRankSum
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DP
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MQ
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MQRankSum
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SIO_000300: -3.94e-1

ReadPosRankSum
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SIO_000300: 1.59e0

ClippingRankSum
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SIO_000300: -2.96e-1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 3890
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 380
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.659969088098918e-5
allele num: 10352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22458
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2886
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1848
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

FS
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SIO_000300: 0.0e0

MQRankSum
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DP
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -1.52e-2

ClippingRankSum
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BaseQRankSum
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SIO_000300: 1.57e0

MQ
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SIO_000300: 5.569e1

VQSLOD
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SIO_000300: -1.078e0

QD
type: SiteQuality
SIO_000300: 1.279e1

GenotypeDepth
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variant carriers: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2166
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2846
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25546
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 436
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.956830277942046e-4
allele num: 3382
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-1

ClippingRankSum
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BaseQRankSum
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SIO_000300: 2.38e0

FS
type: SiteQuality
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MQ
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SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: -1.28e-2

MQRankSum
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SIO_000300: -6.76e-1

DP
type: SiteQuality
SIO_000300: 8.04005e5

VQSLOD
type: SiteQuality
SIO_000300: 6.69e-1

QD
type: SiteQuality
SIO_000300: 1.235e1

GenotypeDepth
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 2990
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 2.842524161455372e-4
allele num: 3518
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4374
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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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 436
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 26602
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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DP
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QD
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FS
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MQRankSum
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ReadPosRankSum
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MQ
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SIO_000300: 5.811e1

GenotypeDepth
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variant carriers: 0

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

Latino
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allele count: 1
allele frequency: 2.475247524752475e-4
allele num: 4040
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 3.04062271953296e-5
allele num: 32888
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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DP
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SIO_000300: 9.12672e5

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2882
num of homozygotes: 0

South Asian
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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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Latino
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Other
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European (Non-Finnish)
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allele count: 0
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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VQSLOD
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BaseQRankSum
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QD
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ClippingRankSum
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FS
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DP
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ReadPosRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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Latino
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European (Non-Finnish)
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East Asian
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South Asian
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BaseQRankSum
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FS
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VQSLOD
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DP
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MQ
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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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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African
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South Asian
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Latino
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Other
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European (Non-Finnish)
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East Asian
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DP
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MQ
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MQRankSum
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BaseQRankSum
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QD
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FS
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VQSLOD
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InbreedingCoeff
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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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European (Non-Finnish)
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African
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East Asian
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European (Finnish)
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South Asian
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ReadPosRankSum
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FS
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InbreedingCoeff
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DP
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BaseQRankSum
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VQSLOD
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MQ
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QD
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MQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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African
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Latino
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European (Non-Finnish)
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South Asian
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DP
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ClippingRankSum
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InbreedingCoeff
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FS
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MQRankSum
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BaseQRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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African
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European (Non-Finnish)
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FS
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MQRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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QD
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DP
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ReadPosRankSum
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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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East Asian
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African
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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QD
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FS
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DP
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

European (Finnish)
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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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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele num: 7442
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Other
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

MQ
type: SiteQuality
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DP
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InbreedingCoeff
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FS
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ReadPosRankSum
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MQRankSum
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VQSLOD
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ClippingRankSum
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QD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9536
num of homozygotes: 0

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

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

South Asian
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allele frequency: 6.700616456714018e-5
allele num: 14924
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African
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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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num of homozygotes: 0

East Asian
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ReadPosRankSum
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QD
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FS
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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DP
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 58568
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 1.290655653071761e-4
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num of homozygotes: 0

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

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

Latino
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FS
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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MQ
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MQRankSum
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InbreedingCoeff
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DP
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QD
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GenotypeDepth
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variant carriers: 5

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15584
num of homozygotes: 0

European (Non-Finnish)
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allele count: 14
allele frequency: 2.319878040697289e-4
allele num: 60348
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
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Other
type: Population
allele count: 0
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num of homozygotes: 0

VQSLOD
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ClippingRankSum
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FS
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BaseQRankSum
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MQ
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SIO_000300: 5.884e1

DP
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QD
type: SiteQuality
SIO_000300: 1.1e-1

MQRankSum
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SIO_000300: -4.93e-1

InbreedingCoeff
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 25
allele frequency: 4.036685396886908e-4
allele num: 61932
num of homozygotes: 0

Latino
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allele frequency: 2.800597460791635e-4
allele num: 10712
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.273074474856779e-4
allele num: 15710
num of homozygotes: 0

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

African
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allele frequency: 1.109877913429523e-4
allele num: 9010
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East Asian
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allele count: 0
allele frequency: 0.0e0
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Other
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BaseQRankSum
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FS
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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DP
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VQSLOD
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MQ
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QD
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InbreedingCoeff
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SIO_000300: -1.0e-4

GenotypeDepth
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variant carriers: 0

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

East Asian
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South Asian
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African
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allele frequency: 0.0e0
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European (Finnish)
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Other
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European (Non-Finnish)
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allele count: 1
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allele num: 63318
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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QD
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ReadPosRankSum
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BaseQRankSum
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FS
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MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6100
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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Other
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South Asian
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East Asian
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European (Non-Finnish)
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allele num: 64802
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MQ
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FS
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VQSLOD
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InbreedingCoeff
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DP
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MQRankSum
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BaseQRankSum
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QD
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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African
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European (Non-Finnish)
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European (Finnish)
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Other
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MQRankSum
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ReadPosRankSum
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DP
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InbreedingCoeff
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FS
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BaseQRankSum
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ClippingRankSum
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MQ
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QD
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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num of homozygotes: 0

European (Finnish)
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Other
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European (Non-Finnish)
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East Asian
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African
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Latino
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MQ
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QD
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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FS
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BaseQRankSum
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MQRankSum
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SIO_000300: 1.95e0

DP
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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European (Finnish)
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Other
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Latino
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South Asian
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ReadPosRankSum
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DP
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ClippingRankSum
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FS
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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QD
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VQSLOD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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South Asian
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Latino
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East Asian
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European (Non-Finnish)
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MQRankSum
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VQSLOD
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ClippingRankSum
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QD
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MQ
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FS
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InbreedingCoeff
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DP
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ReadPosRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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European (Non-Finnish)
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South Asian
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African
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Other
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Latino
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ReadPosRankSum
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QD
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VQSLOD
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MQRankSum
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FS
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MQ
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BaseQRankSum
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DP
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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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European (Finnish)
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African
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East Asian
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South Asian
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Latino
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allele frequency: 3.023065993530639e-5
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ReadPosRankSum
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BaseQRankSum
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QD
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SIO_000300: 1.232e1

MQRankSum
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SIO_000300: -2.22e-1

ClippingRankSum
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SIO_000300: 3.4e-2

VQSLOD
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DP
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FS
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MQ
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InbreedingCoeff
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SIO_000300: 1.1e-3

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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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Other
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East Asian
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African
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allele frequency: 9.796238244514106e-5
allele num: 10208
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European (Non-Finnish)
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allele frequency: 0.0e0
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FS
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MQRankSum
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DP
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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MQ
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QD
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BaseQRankSum
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SIO_000300: -1.284e0

ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

African
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Other
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66220
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
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FS
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MQ
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QD
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ClippingRankSum
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DP
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VQSLOD
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MQRankSum
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SIO_000300: 8.400000000000001e-2

BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
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num of homozygotes: 0

East Asian
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South Asian
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Latino
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African
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European (Non-Finnish)
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Other
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VQSLOD
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BaseQRankSum
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MQ
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ClippingRankSum
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MQRankSum
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QD
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InbreedingCoeff
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FS
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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South Asian
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African
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Other
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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QD
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FS
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MQ
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InbreedingCoeff
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DP
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VQSLOD
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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African
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East Asian
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European (Finnish)
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Latino
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South Asian
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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QD
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FS
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VQSLOD
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MQ
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DP
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1190
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3117
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 52
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2522
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505434618974498e-5
allele num: 66426
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.928e1

VQSLOD
type: SiteQuality
SIO_000300: 4.28e-1

QD
type: SiteQuality
SIO_000300: 1.065e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.37e-1

DP
type: SiteQuality
SIO_000300: 1.554002e6

FS
type: SiteQuality
SIO_000300: 5.23e-1

GenotypeDepth
all individuals: 658
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12348
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2299
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 366
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 25
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1245
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 107
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7377
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 312
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1206
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2522
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3117
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3490
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37760
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1190
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3390
bin: 9.75e1
variant carriers: 2

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.010869237948996e-5
allele num: 66426
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.28e-1

QD
type: SiteQuality
SIO_000300: 1.065e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.04e-1

DP
type: SiteQuality
SIO_000300: 1.554002e6

MQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

GenotypeDepth
all individuals: 38
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2299
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 164
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 366
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 161
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1249
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 171
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 36015
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12373
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 79
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 37691
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1206
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 58
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3122
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3490
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7379
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2520
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1190
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3395
bin: 9.75e1
variant carriers: 5

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10274
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.526040098741646e-5
allele num: 66436
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.554374e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.74e-1

FS
type: SiteQuality
SIO_000300: 1.102e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.065e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.29e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.27e0

QD
type: SiteQuality
SIO_000300: 1.265e1

GenotypeDepth
all individuals: 6712
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 25
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 166
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 48
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2300
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 659
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.75e1
variant carriers: 0