2-18766141-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18766141
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18766141
    reference: chr 2
allele count: 1
allele frequency: 1.096563370397175e-5
allele num: 91194
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.295C>G
  hgvsp: ENSP00000383905.2:p.Arg99Gly
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.593C>G
  hgvsp: ENSP00000401656.1:p.Ala198Gly
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.895C>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.362C>G
  hgvsp: ENSP00000305979.4:p.Ala121Gly
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.368C>G
  hgvsp: ENSP00000412639.2:p.Ala123Gly
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.542C>G
  hgvsp: ENSP00000352904.2:p.Ala181Gly
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.542C>G
  hgvsp: ENSP00000471357.1:p.Ala181Gly
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.542C>G
  hgvsp: ENSP00000433415.1:p.Ala181Gly
  variant of: http://identifiers.org/hgnc/38831
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7040
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17876
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7899
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10695
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4381
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2761
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala181Gly
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

2-18766142-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18766142
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18766142
    reference: chr 2
allele count: 4
allele frequency: 4.397537379067722e-5
allele num: 90960
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.294G>C
  hgvsp: ENST00000406971.2:c.294G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.541G>C
  hgvsp: ENSP00000471357.1:p.Ala181Pro
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.367G>C
  hgvsp: ENSP00000412639.2:p.Ala123Pro
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.541G>C
  hgvsp: ENSP00000433415.1:p.Ala181Pro
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.361G>C
  hgvsp: ENSP00000305979.4:p.Ala121Pro
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.592G>C
  hgvsp: ENSP00000401656.1:p.Ala198Pro
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.541G>C
  hgvsp: ENSP00000352904.2:p.Ala181Pro
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.894G>C
  variant of: http://identifiers.org/hgnc/17818
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10753
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11492
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17911
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6898
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7929
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2806
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2702
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala181Pro
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

2-18766143-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18766143
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18766143
    reference: chr 2
allele count: 2
allele frequency: 2.208383021951327e-5
allele num: 90564
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.893C>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.293C>A
  hgvsp: ENSP00000383905.2:p.Pro98Gln
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.360C>A
  hgvsp: ENST00000304081.4:c.360C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.540C>A
  hgvsp: ENST00000532967.1:c.540C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.366C>A
  hgvsp: ENST00000444297.2:c.366C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.540C>A
  hgvsp: ENST00000359846.2:c.540C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.540C>A
  hgvsp: ENST00000600945.1:c.540C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.591C>A
  hgvsp: ENST00000416783.1:c.591C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17818
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10897
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6938
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7722
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2685
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1575
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro98Gln
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

2-18766156-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18766156
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18766156
    reference: chr 2
allele count: 4
allele frequency: 4.795933048774639e-5
allele num: 83404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.578C>G
  hgvsp: ENSP00000401656.1:p.Ser193Trp
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.527C>G
  hgvsp: ENSP00000471357.1:p.Ser176Trp
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.353C>G
  hgvsp: ENSP00000412639.2:p.Ser118Trp
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.880C>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.527C>G
  hgvsp: ENSP00000352904.2:p.Ser176Trp
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.347C>G
  hgvsp: ENSP00000305979.4:p.Ser116Trp
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.280C>G
  hgvsp: ENSP00000383905.2:p.Arg94Gly
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.527C>G
  hgvsp: ENSP00000433415.1:p.Ser176Trp
  variant of: http://identifiers.org/hgnc/38831
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3715
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8068
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19445
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12631
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8829
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4874
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5282
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 4249
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser176Trp
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

2-18766156-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18766156
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18766156
    reference: chr 2
allele count: 5807
allele frequency: 6.962495803558583e-2
allele num: 83404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.353C>A
  hgvsp: ENSP00000412639.2:p.Ser118Ter
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.527C>A
  hgvsp: ENSP00000433415.1:p.Ser176Ter
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.527C>A
  hgvsp: ENSP00000471357.1:p.Ser176Ter
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.280C>A
  hgvsp: ENSP00000383905.2:p.Arg94Ser
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.578C>A
  hgvsp: ENSP00000401656.1:p.Ser193Ter
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.527C>A
  hgvsp: ENSP00000352904.2:p.Ser176Ter
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.880C>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.347C>A
  hgvsp: ENSP00000305979.4:p.Ser116Ter
  variant of: http://identifiers.org/hgnc/17818
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.25e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 8068
  bin: 1.75e1
  variant carriers: 1717
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 3.75e1
  variant carriers: 107
genotype depth: GenotypeDepth
  all individuals: 4874
  bin: 2.75e1
  variant carriers: 686
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 3.25e1
  variant carriers: 275
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 8829
  bin: 2.25e1
  variant carriers: 1286
genotype depth: GenotypeDepth
  all individuals: 19445
  bin: 1.25e1
  variant carriers: 1299
genotype depth: GenotypeDepth
  all individuals: 3715
  bin: 2.5e0
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 12631
  bin: 7.5e0
  variant carriers: 484
genotype quality: GenotypeQuality
  all individuals: 4762
  bin: 2.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 1.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 21408
  bin: 2.25e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 2309
  bin: 3.75e1
  variant carriers: 61
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 7.75e1
  variant carriers: 67
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 4.25e1
  variant carriers: 38
hgvs: p.Ser176Ter
num of homozygotes: 272
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

2-18766164-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18766164
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18766164
    reference: chr 2
allele count: 1
allele frequency: 1.279132236690629e-5
allele num: 78178
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.519G>A
  hgvsp: ENST00000600945.1:c.519G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.519G>A
  hgvsp: ENST00000359846.2:c.519G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.276-4G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.570G>A
  hgvsp: ENST00000416783.1:c.570G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.345G>A
  hgvsp: ENST00000444297.2:c.345G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.872G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.339G>A
  hgvsp: ENST00000304081.4:c.339G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.519G>A
  hgvsp: ENST00000532967.1:c.519G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/38831
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4987
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13984
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20704
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7924
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6574
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2857
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5721
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5520
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5711
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 6.75e1
  variant carriers: 0
hgvs: c.276-4G>A
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

2-18766167-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18766167
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18766167
    reference: chr 2
allele count: 1
allele frequency: 1.349054312926638e-5
allele num: 74126
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.516C>T
  hgvsp: ENST00000600945.1:c.516C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.336C>T
  hgvsp: ENST00000304081.4:c.336C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.342C>T
  hgvsp: ENST00000444297.2:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.869C>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.516C>T
  hgvsp: ENST00000532967.1:c.516C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.567C>T
  hgvsp: ENST00000416783.1:c.567C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.276-7C>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.516C>T
  hgvsp: ENST00000359846.2:c.516C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17818
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8525
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5534
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5743
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14534
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2755
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2038
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3012
  bin: 3.75e1
  variant carriers: 0
hgvs: c.276-7C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD

2-18766171-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18766171
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18766171
    reference: chr 2
allele count: 1
allele frequency: 1.362026695723236e-5
allele num: 73420
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.563T>C
  hgvsp: ENSP00000401656.1:p.Leu188Pro
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.332T>C
  hgvsp: ENSP00000305979.4:p.Leu111Pro
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.865T>C
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.512T>C
  hgvsp: ENSP00000471357.1:p.Leu171Pro
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.338T>C
  hgvsp: ENSP00000412639.2:p.Leu113Pro
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.512T>C
  hgvsp: ENSP00000433415.1:p.Leu171Pro
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.276-11T>C
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.512T>C
  hgvsp: ENSP00000352904.2:p.Leu171Pro
  variant of: http://identifiers.org/hgnc/17818
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8412
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19840
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3075
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5802
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5794
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6871
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2109
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu171Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

2-18766173-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18766173
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18766173
    reference: chr 2
allele count: 92
allele frequency: 1.300537178399774e-3
allele num: 70740
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.510G>A
  hgvsp: ENST00000359846.2:c.510G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.336G>A
  hgvsp: ENST00000444297.2:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.510G>A
  hgvsp: ENST00000600945.1:c.510G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.863G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.276-13G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.510G>A
  hgvsp: ENST00000532967.1:c.510G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.561G>A
  hgvsp: ENST00000416783.1:c.561G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.330G>A
  hgvsp: ENST00000304081.4:c.330G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17818
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5306
  bin: 2.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15387
  bin: 7.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8499
  bin: 1.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6356
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19448
  bin: 1.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5753
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20473
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3063
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 2.5e0
  variant carriers: 1
hgvs: p.Pro170Pro
num of homozygotes: 1
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum

2-18766174-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18766174
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18766174
    reference: chr 2
allele count: 4
allele frequency: 5.622557701498412e-5
allele num: 71142
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.509C>T
  hgvsp: ENSP00000352904.2:p.Pro170Leu
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.509C>T
  hgvsp: ENSP00000471357.1:p.Pro170Leu
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.335C>T
  hgvsp: ENSP00000412639.2:p.Pro112Leu
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.329C>T
  hgvsp: ENSP00000305979.4:p.Pro110Leu
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.276-14C>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.560C>T
  hgvsp: ENSP00000401656.1:p.Pro187Leu
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.509C>T
  hgvsp: ENSP00000433415.1:p.Pro170Leu
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.862C>T
  variant of: http://identifiers.org/hgnc/17818
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19290
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5337
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8320
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6516
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15646
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5789
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7120
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro170Leu
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

2-18766186-G-GAGTC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18766186
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18766190
    reference: chr 2
allele count: 1
allele frequency: 1.451378809869376e-5
allele num: 68900
alternate allele: GAGTC
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.493_496dupGACT
  hgvsp: ENSP00000352904.2:p.Ser166Ter
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.313_316dupGACT
  hgvsp: ENSP00000305979.4:p.Ser106Ter
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.319_322dupGACT
  hgvsp: ENSP00000412639.2:p.Ser108Ter
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.544_547dupGACT
  hgvsp: ENSP00000401656.1:p.Ser183Ter
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.493_496dupGACT
  hgvsp: ENSP00000471357.1:p.Ser166Ter
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.276-30_276-27dupGACT
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.493_496dupGACT
  hgvsp: ENSP00000433415.1:p.Ser166Ter
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.846_849dupGACT
  variant of: http://identifiers.org/hgnc/17818
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16985
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17939
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7515
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser166Ter
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

2-18766191-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18766191
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18766191
    reference: chr 2
allele count: 485
allele frequency: 7.055982309124767e-3
allele num: 68736
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.318T>C
  hgvsp: ENST00000444297.2:c.318T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.276-31T>C
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.492T>C
  hgvsp: ENST00000600945.1:c.492T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.845T>C
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.492T>C
  hgvsp: ENST00000532967.1:c.492T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.492T>C
  hgvsp: ENST00000359846.2:c.492T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.312T>C
  hgvsp: ENST00000304081.4:c.312T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.543T>C
  hgvsp: ENST00000416783.1:c.543T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17818
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17091
  bin: 7.5e0
  variant carriers: 142
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7163
  bin: 2.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 17706
  bin: 1.25e1
  variant carriers: 208
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6703
  bin: 2.25e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7100
  bin: 1.75e1
  variant carriers: 164
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 2.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5442
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 6.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 8.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7447
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 5.75e1
  variant carriers: 9
hgvs: p.His164His
num of homozygotes: 7
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-18766196-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18766196
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18766196
    reference: chr 2
allele count: 1
allele frequency: 1.468687580777817e-5
allele num: 68088
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.313C>G
  hgvsp: ENSP00000412639.2:p.Leu105Val
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.307C>G
  hgvsp: ENSP00000305979.4:p.Leu103Val
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.487C>G
  hgvsp: ENSP00000433415.1:p.Leu163Val
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.538C>G
  hgvsp: ENSP00000401656.1:p.Leu180Val
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.487C>G
  hgvsp: ENSP00000352904.2:p.Leu163Val
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.487C>G
  hgvsp: ENSP00000471357.1:p.Leu163Val
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.840C>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.276-36C>G
  variant of: http://identifiers.org/hgnc/17818
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7350
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17054
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17535
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7240
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7449
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2862
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2913
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu163Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP

2-18766197-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18766197
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18766197
    reference: chr 2
allele count: 1
allele frequency: 1.471150734104216e-5
allele num: 67974
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.306C>T
  hgvsp: ENST00000304081.4:c.306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.839C>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.312C>T
  hgvsp: ENST00000444297.2:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.486C>T
  hgvsp: ENST00000532967.1:c.486C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.275+37C>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.486C>T
  hgvsp: ENST00000359846.2:c.486C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.537C>T
  hgvsp: ENST00000416783.1:c.537C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.486C>T
  hgvsp: ENST00000600945.1:c.486C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17818
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 17492
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17079
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7326
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2078
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2812
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5472
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser162Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ

2-18766198-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18766198
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18766198
    reference: chr 2
allele count: 1
allele frequency: 1.469982948197801e-5
allele num: 68028
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.485G>A
  hgvsp: ENSP00000471357.1:p.Ser162Asn
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.485G>A
  hgvsp: ENSP00000433415.1:p.Ser162Asn
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.485G>A
  hgvsp: ENSP00000352904.2:p.Ser162Asn
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.275+36G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.305G>A
  hgvsp: ENSP00000305979.4:p.Ser102Asn
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.311G>A
  hgvsp: ENSP00000412639.2:p.Ser104Asn
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.838G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.536G>A
  hgvsp: ENSP00000401656.1:p.Ser179Asn
  variant of: http://identifiers.org/hgnc/17818
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17464
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21564
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2012
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2159
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser162Asn
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

2-18766199-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18766199
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18766199
    reference: chr 2
allele count: 1
allele frequency: 1.46481514032929e-5
allele num: 68268
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.304A>G
  hgvsp: ENSP00000305979.4:p.Ser102Gly
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.535A>G
  hgvsp: ENSP00000401656.1:p.Ser179Gly
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.484A>G
  hgvsp: ENSP00000433415.1:p.Ser162Gly
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.837A>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.275+35A>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.484A>G
  hgvsp: ENSP00000352904.2:p.Ser162Gly
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.484A>G
  hgvsp: ENSP00000471357.1:p.Ser162Gly
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.310A>G
  hgvsp: ENSP00000412639.2:p.Ser104Gly
  variant of: http://identifiers.org/hgnc/38831
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17407
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2791
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7390
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser162Gly
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-18766206-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18766206
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18766206
    reference: chr 2
allele count: 348
allele frequency: 5.073330028865499e-3
allele num: 68594
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.477C>T
  hgvsp: ENST00000359846.2:c.477C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.830C>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.528C>T
  hgvsp: ENST00000416783.1:c.528C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.275+28C>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.297C>T
  hgvsp: ENST00000304081.4:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.477C>T
  hgvsp: ENST00000532967.1:c.477C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.477C>T
  hgvsp: ENST00000600945.1:c.477C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.303C>T
  hgvsp: ENST00000444297.2:c.303C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/38831
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 2.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16885
  bin: 1.25e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 7164
  bin: 1.75e1
  variant carriers: 94
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6914
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 17435
  bin: 7.5e0
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7135
  bin: 2.25e1
  variant carriers: 50
genotype quality: GenotypeQuality
  all individuals: 5468
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 7.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 7.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 21222
  bin: 2.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 7074
  bin: 7.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 5.25e1
  variant carriers: 8
hgvs: p.Thr159Thr
num of homozygotes: 11
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-18766219-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18766219
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18766219
    reference: chr 2
allele count: 1
allele frequency: 1.422879908935686e-5
allele num: 70280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.464G>T
  hgvsp: ENSP00000471357.1:p.Arg155Leu
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.464G>T
  hgvsp: ENSP00000433415.1:p.Arg155Leu
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.515G>T
  hgvsp: ENSP00000401656.1:p.Arg172Leu
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.290G>T
  hgvsp: ENSP00000412639.2:p.Arg97Leu
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.284G>T
  hgvsp: ENSP00000305979.4:p.Arg95Leu
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.554G>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.464G>T
  hgvsp: ENSP00000352904.2:p.Arg155Leu
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.817G>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.275+15G>T
  variant of: http://identifiers.org/hgnc/17818
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6017
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16936
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15994
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg155Leu
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

2-18766220-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18766220
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18766220
    reference: chr 2
allele count: 1
allele frequency: 1.404691670178396e-5
allele num: 71190
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.463C>G
  hgvsp: ENSP00000471357.1:p.Arg155Gly
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.463C>G
  hgvsp: ENSP00000433415.1:p.Arg155Gly
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.289C>G
  hgvsp: ENSP00000412639.2:p.Arg97Gly
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.283C>G
  hgvsp: ENSP00000305979.4:p.Arg95Gly
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.514C>G
  hgvsp: ENSP00000401656.1:p.Arg172Gly
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.463C>G
  hgvsp: ENSP00000352904.2:p.Arg155Gly
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.816C>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.275+14C>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.553C>G
  variant of: http://identifiers.org/hgnc/17818
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5842
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6033
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16833
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15642
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6029
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2760
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg155Gly
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

2-18766227-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18766227
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18766227
    reference: chr 2
allele count: 1
allele frequency: 1.343941511665412e-5
allele num: 74408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.507G>C
  hgvsp: ENST00000416783.1:c.507G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.456G>C
  hgvsp: ENST00000600945.1:c.456G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.809G>C
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.456G>C
  hgvsp: ENST00000359846.2:c.456G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.276G>C
  hgvsp: ENST00000304081.4:c.276G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.456G>C
  hgvsp: ENST00000532967.1:c.456G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.546G>C
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.275+7G>C
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.282G>C
  hgvsp: ENST00000444297.2:c.282G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/38831
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4747
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13590
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13874
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4376
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 1.75e1
  variant carriers: 0
hgvs: c.275+7G>C
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

2-18766228-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18766228
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18766228
    reference: chr 2
allele count: 2
allele frequency: 2.641170566795204e-5
allele num: 75724
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.455C>T
  hgvsp: ENSP00000471357.1:p.Thr152Met
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.808C>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.281C>T
  hgvsp: ENSP00000412639.2:p.Thr94Met
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.506C>T
  hgvsp: ENSP00000401656.1:p.Thr169Met
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.455C>T
  hgvsp: ENSP00000433415.1:p.Thr152Met
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.275C>T
  hgvsp: ENSP00000305979.4:p.Thr92Met
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.275+6C>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.545C>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.455C>T
  hgvsp: ENSP00000352904.2:p.Thr152Met
  variant of: http://identifiers.org/hgnc/17818
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12728
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16002
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4977
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4174
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4390
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19455
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2184
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr152Met
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

2-18766237-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18766237
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18766237
    reference: chr 2
allele count: 1
allele frequency: 1.224559770762411e-5
allele num: 81662
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.272G>A
  hgvsp: ENSP00000412639.2:p.Ser91Asn
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.446G>A
  hgvsp: ENSP00000352904.2:p.Ser149Asn
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.799G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.266G>A
  hgvsp: ENSP00000305979.4:p.Ser89Asn
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.446G>A
  hgvsp: ENSP00000433415.1:p.Ser149Asn
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.497G>A
  hgvsp: ENSP00000401656.1:p.Ser166Asn
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.272G>A
  hgvsp: ENSP00000383905.2:p.Ser91Asn
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.446G>A
  hgvsp: ENSP00000471357.1:p.Ser149Asn
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.536G>A
  variant of: http://identifiers.org/hgnc/17818
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5575
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9055
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1514
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21241
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2805
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser149Asn
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: QD

2-18766240-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18766240
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18766240
    reference: chr 2
allele count: 1
allele frequency: 1.184862200526079e-5
allele num: 84398
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.443C>T
  hgvsp: ENSP00000352904.2:p.Pro148Leu
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.796C>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.443C>T
  hgvsp: ENSP00000433415.1:p.Pro148Leu
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.263C>T
  hgvsp: ENSP00000305979.4:p.Pro88Leu
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.269C>T
  hgvsp: ENSP00000412639.2:p.Pro90Leu
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.269C>T
  hgvsp: ENSP00000383905.2:p.Pro90Leu
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.494C>T
  hgvsp: ENSP00000401656.1:p.Pro165Leu
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.533C>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.443C>T
  hgvsp: ENSP00000471357.1:p.Pro148Leu
  variant of: http://identifiers.org/hgnc/17818
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7709
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro148Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ

2-18766245-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18766245
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18766245
    reference: chr 2
allele count: 1
allele frequency: 1.137113097268654e-5
allele num: 87942
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.439-1G>C
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.792-1G>C
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.259-1G>C
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.265-1G>C
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.439-1G>C
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.265-1G>C
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.439-1G>C
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.490-1G>C
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.528G>C
  variant of: http://identifiers.org/hgnc/17818
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6999
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25943
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12076
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6306
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1952
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4191
  bin: 6.75e1
  variant carriers: 0
hgvs: c.439-1G>C
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ

2-18766264-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18766264
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18766264
    reference: chr 2
allele count: 2
allele frequency: 1.989297579024846e-5
allele num: 100538
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.259-20C>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.439-20C>T
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.490-20C>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.439-20C>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.509C>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.439-20C>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.265-20C>T
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.265-20C>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.792-20C>T
  variant of: http://identifiers.org/hgnc/17818
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9701
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7528
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5961
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7723
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2392
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD

2-18766267-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18766267
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18766266
    reference: chr 2
allele count: 2
allele frequency: 1.954384661989173e-5
allele num: 102334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.259-24delC
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.792-24delC
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.439-24delC
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.490-24delC
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.505delC
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.439-24delC
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.265-24delC
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.265-24delC
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.439-24delC
  variant of: http://identifiers.org/hgnc/17818
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6958
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33546
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6168
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
reference allele: TG
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

2-18766273-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18766273
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18766273
    reference: chr 2
allele count: 1
allele frequency: 9.566448551639689e-6
allele num: 104532
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.439-29G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.259-29G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.490-29G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.439-29G>A
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.500G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.265-29G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.439-29G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.792-29G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.265-29G>A
  variant of: http://identifiers.org/hgnc/38831
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6022
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4192
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6356
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2147
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum

2-18766277-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18766277
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18766277
    reference: chr 2
allele count: 1
allele frequency: 9.351912466099317e-6
allele num: 106930
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.496C>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.490-33C>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.792-33C>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.265-33C>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.439-33C>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.439-33C>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.259-33C>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.439-33C>T
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.265-33C>T
  variant of: http://identifiers.org/hgnc/38831
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5389
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2762
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/2-18766278-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18766278
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18766278
    reference: chr 2
allele count: 1
allele frequency: 9.324183201551544e-6
allele num: 107248
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.439-34G>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.495G>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.265-34G>T
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.439-34G>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.259-34G>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.439-34G>T
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.265-34G>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.490-34G>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.792-34G>T
  variant of: http://identifiers.org/hgnc/17818
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5014
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6695
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2786
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-18766279-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18766279
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18766279
    reference: chr 2
allele count: 1
allele frequency: 9.273340999295227e-6
allele num: 107836
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.265-35G>C
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.439-35G>C
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.494G>C
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.259-35G>C
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.490-35G>C
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.265-35G>C
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.439-35G>C
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.792-35G>C
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.439-35G>C
  variant of: http://identifiers.org/hgnc/17818
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4832
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1892
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

2-18766283-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18766283
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18766283
    reference: chr 2
allele count: 19
allele frequency: 1.738557546254781e-4
allele num: 109286
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.439-39G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.490G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.439-39G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.490-39G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.265-39G>A
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.792-39G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.265-39G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.439-39G>A
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.259-39G>A
  variant of: http://identifiers.org/hgnc/17818
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10645
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4629
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1934
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

2-18766284-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18766284
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18766284
    reference: chr 2
allele count: 1
allele frequency: 9.117765053430103e-6
allele num: 109676
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.490-40A>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.792-40A>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.439-40A>G
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.439-40A>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.265-40A>G
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.265-40A>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.489A>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.439-40A>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.259-40A>G
  variant of: http://identifiers.org/hgnc/17818
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4052
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

2-18766292-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18766292
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18766292
    reference: chr 2
allele count: 21
allele frequency: 1.881450688073395e-4
allele num: 111616
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.439-48A>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.792-48A>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.481A>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.265-48A>T
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.265-48A>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.490-48A>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.439-48A>T
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.259-48A>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.439-48A>T
  variant of: http://identifiers.org/hgnc/17818
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2943
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36714
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 9.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 3316
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: T
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

2-18766294-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18766294
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18766294
    reference: chr 2
allele count: 4
allele frequency: 3.572257845571293e-5
allele num: 111974
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.490-50G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.479G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.439-50G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.439-50G>A
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.259-50G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.439-50G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.265-50G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.792-50G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.265-50G>A
  variant of: http://identifiers.org/hgnc/38831
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2967
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36738
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3077
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2945
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

2-18766295-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18766295
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18766295
    reference: chr 2
allele count: 2
allele frequency: 1.77945441927505e-5
allele num: 112394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.265-51C>A
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.265-51C>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.439-51C>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.439-51C>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.490-51C>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.439-51C>A
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.478C>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.259-51C>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.792-51C>A
  variant of: http://identifiers.org/hgnc/17818
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36985
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4862
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

2-18766296-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18766296
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18766296
    reference: chr 2
allele count: 273
allele frequency: 2.421887475381913e-3
allele num: 112722
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.439-52C>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.477C>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.265-52C>T
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.490-52C>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.439-52C>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.259-52C>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.265-52C>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.792-52C>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.439-52C>T
  variant of: http://identifiers.org/hgnc/38831
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 10872
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 4866
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 3.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 36962
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 36882
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7010
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 1
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

2-18766361-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18766361
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18766361
    reference: chr 2
allele count: 237
allele frequency: 2.059222187467417e-3
allele num: 115092
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.265-117G>A
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.265-117G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.792-117G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.439-117G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.439-117G>A
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.412G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.439-117G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.490-117G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.259-117G>A
  variant of: http://identifiers.org/hgnc/17818
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 4.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 47570
  bin: 9.75e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 6
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-18766370-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18766370
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18766370
    reference: chr 2
allele count: 7
allele frequency: 6.101387629872394e-5
allele num: 114728
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.265-126A>G
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.490-126A>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.792-126A>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.439-126A>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.259-126A>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.403A>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.439-126A>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.439-126A>G
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.265-126A>G
  variant of: http://identifiers.org/hgnc/17818
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47564
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-18766386-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18766386
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18766386
    reference: chr 2
allele count: 3
allele frequency: 2.630240754703747e-5
allele num: 114058
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.490-142G>C
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.265-142G>C
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.792-142G>C
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.259-142G>C
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.439-142G>C
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.265-142G>C
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.387G>C
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.439-142G>C
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.439-142G>C
  variant of: http://identifiers.org/hgnc/17818
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47564
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

2-18766386-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18766386
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18766386
    reference: chr 2
allele count: 2
allele frequency: 1.753493836469165e-5
allele num: 114058
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.259-142G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.387G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.792-142G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.439-142G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.265-142G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.490-142G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.439-142G>A
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.265-142G>A
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.439-142G>A
  variant of: http://identifiers.org/hgnc/17818
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47564
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

2-18766387-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18766387
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18766387
    reference: chr 2
allele count: 2
allele frequency: 1.754755387099038e-5
allele num: 113976
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.265-143C>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.490-143C>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.439-143C>T
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.259-143C>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.439-143C>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.792-143C>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.265-143C>T
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.386C>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.439-143C>T
  variant of: http://identifiers.org/hgnc/17818
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47564
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52990
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

2-18766419-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18766419
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18766419
    reference: chr 2
allele count: 1
allele frequency: 8.823166104925091e-6
allele num: 113338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.792-175G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.439-175G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.265-175G>A
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.355-1G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.439-175G>A
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.265-175G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.259-175G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.490-175G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.439-175G>A
  variant of: http://identifiers.org/hgnc/17818
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47565
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 7.5e0
  variant carriers: 0
hgvs: n.355-1G>A
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

2-18766451-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18766451
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18766451
    reference: chr 2
allele count: 1
allele frequency: 8.846113017939918e-6
allele num: 113044
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.259-207T>C
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.439-207T>C
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.265-207T>C
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.265-207T>C
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.355-33T>C
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.792-207T>C
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.439-207T>C
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.439-207T>C
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.490-207T>C
  variant of: http://identifiers.org/hgnc/17818
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47565
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

2-18766462-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18766462
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18766462
    reference: chr 2
allele count: 7
allele frequency: 6.19403249212473e-5
allele num: 113012
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.265-218C>G
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.439-218C>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.439-218C>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.439-218C>G
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.265-218C>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.355-44C>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.792-218C>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.259-218C>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.490-218C>G
  variant of: http://identifiers.org/hgnc/17818
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47565
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52986
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-18766466-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18766466
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18766466
    reference: chr 2
allele count: 1
allele frequency: 8.849870791886438e-6
allele num: 112996
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.265-222G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.439-222G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.490-222G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.439-222G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.439-222G>A
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.355-48G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.259-222G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.265-222G>A
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.792-222G>A
  variant of: http://identifiers.org/hgnc/17818
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47565
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-18766467-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18766467
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18766467
    reference: chr 2
allele count: 1
allele frequency: 8.849714154232818e-6
allele num: 112998
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.439-223G>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.265-223G>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.259-223G>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.439-223G>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.792-223G>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.355-49G>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.439-223G>T
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.490-223G>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.265-223G>T
  variant of: http://identifiers.org/hgnc/38831
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47565
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP

2-18766467-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18766467
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18766467
    reference: chr 2
allele count: 1
allele frequency: 8.849714154232818e-6
allele num: 112998
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.439-223G>A
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.265-223G>A
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.490-223G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.265-223G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.355-49G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.792-223G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.259-223G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.439-223G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.439-223G>A
  variant of: http://identifiers.org/hgnc/17818
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47565
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

2-18767471-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18767471
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18767471
    reference: chr 2
allele count: 2
allele frequency: 1.671486118307788e-5
allele num: 119654
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.791+43G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.264+43G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.489+49G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.258+49G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.438+49G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.354+49G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.438+49G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.264+43G>A
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.438+49G>A
  variant of: http://identifiers.org/hgnc/38831
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12422
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2179
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3305
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

2-18767485-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18767485
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18767485
    reference: chr 2
allele count: 1
allele frequency: 8.337780149413021e-6
allele num: 119936
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.258+35A>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.438+35A>G
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.264+29A>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.264+29A>G
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.791+29A>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.354+35A>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.438+35A>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.438+35A>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.489+35A>G
  variant of: http://identifiers.org/hgnc/17818
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7002
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3497
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4761
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

2-18767486-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18767486
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18767486
    reference: chr 2
allele count: 1
allele frequency: 8.330278897737497e-6
allele num: 120044
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.264+28T>C
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.258+34T>C
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.354+34T>C
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.264+28T>C
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.489+34T>C
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.438+34T>C
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.438+34T>C
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.791+28T>C
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.438+34T>C
  variant of: http://identifiers.org/hgnc/17818
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5240
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7012
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

2-18767487-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18767487
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18767487
    reference: chr 2
allele count: 33
allele frequency: 2.748442549222107e-4
allele num: 120068
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.438+33A>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.258+33A>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.354+33A>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.264+27A>G
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.438+33A>G
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.489+33A>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.438+33A>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.264+27A>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.791+27A>G
  variant of: http://identifiers.org/hgnc/17818
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12748
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9349
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4762
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3497
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-18767492-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18767492
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18767492
    reference: chr 2
allele count: 1
allele frequency: 8.314625426124552e-6
allele num: 120270
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.258+28A>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.791+22A>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.354+28A>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.489+28A>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.264+22A>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.438+28A>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.438+28A>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.438+28A>G
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.264+22A>G
  variant of: http://identifiers.org/hgnc/38831
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12928
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18154
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5255
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

2-18767494-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18767494
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18767494
    reference: chr 2
allele count: 1
allele frequency: 8.312137383006666e-6
allele num: 120306
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.489+26G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.791+20G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.438+26G>A
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.438+26G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.264+20G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.354+26G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.264+20G>A
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.438+26G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.258+26G>A
  variant of: http://identifiers.org/hgnc/17818
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18253
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

2-18767500-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18767500
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18767500
    reference: chr 2
allele count: 3
allele frequency: 2.488181139586962e-5
allele num: 120570
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.264+14G>A
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.258+20G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.438+20G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.438+20G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.438+20G>A
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.489+20G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.791+14G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.264+14G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.354+20G>A
  variant of: http://identifiers.org/hgnc/17818
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6803
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14605
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3499
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

2-18767514-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18767514
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18767513
    reference: chr 2
allele count: 1
allele frequency: 8.265145879824779e-6
allele num: 120990
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.354+5delA
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.258+5delA
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.263delA
  hgvsp: ENSP00000412639.2:p.Glu88GlyfsTer141
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.263delA
  hgvsp: ENSP00000383905.2:p.Glu88GlyfsTer173
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.438+5delA
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.438+5delA
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.489+5delA
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.790delA
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.438+5delA
  variant of: http://identifiers.org/hgnc/38831
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3356
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu88GlyfsTer141
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: CT
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-18767526-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18767526
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18767526
    reference: chr 2
allele count: 3
allele frequency: 2.474675817467912e-5
allele num: 121228
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.252T>G
  hgvsp: ENSP00000305979.4:p.Ser84Arg
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.348T>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.483T>G
  hgvsp: ENSP00000401656.1:p.Ser161Arg
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.432T>G
  hgvsp: ENSP00000433415.1:p.Ser144Arg
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.779T>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.432T>G
  hgvsp: ENSP00000471357.1:p.Ser144Arg
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.252T>G
  hgvsp: ENSP00000383905.2:p.Ser84Arg
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.252T>G
  hgvsp: ENSP00000412639.2:p.Ser84Arg
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.432T>G
  hgvsp: ENSP00000352904.2:p.Ser144Arg
  variant of: http://identifiers.org/hgnc/17818
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13636
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser144Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

2-18767533-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18767533
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18767533
    reference: chr 2
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: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.772A>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.245A>G
  hgvsp: ENSP00000412639.2:p.Asn82Ser
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.245A>G
  hgvsp: ENSP00000383905.2:p.Asn82Ser
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.476A>G
  hgvsp: ENSP00000401656.1:p.Asn159Ser
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.425A>G
  hgvsp: ENSP00000433415.1:p.Asn142Ser
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.425A>G
  hgvsp: ENSP00000471357.1:p.Asn142Ser
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.245A>G
  hgvsp: ENSP00000305979.4:p.Asn82Ser
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.341A>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.425A>G
  hgvsp: ENSP00000352904.2:p.Asn142Ser
  variant of: http://identifiers.org/hgnc/17818
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13034
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2182
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4771
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn142Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP

2-18767536-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18767536
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18767536
    reference: chr 2
allele count: 3
allele frequency: 2.472717681579902e-5
allele num: 121324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.242G>A
  hgvsp: ENSP00000412639.2:p.Arg81Lys
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.422G>A
  hgvsp: ENSP00000471357.1:p.Arg141Lys
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.242G>A
  hgvsp: ENSP00000383905.2:p.Arg81Lys
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.338G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.769G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.422G>A
  hgvsp: ENSP00000433415.1:p.Arg141Lys
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.422G>A
  hgvsp: ENSP00000352904.2:p.Arg141Lys
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.242G>A
  hgvsp: ENSP00000305979.4:p.Arg81Lys
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.473G>A
  hgvsp: ENSP00000401656.1:p.Arg158Lys
  variant of: http://identifiers.org/hgnc/17818
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14603
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4769
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg141Lys
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

2-18767537-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18767537
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18767537
    reference: chr 2
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.241A>G
  hgvsp: ENSP00000305979.4:p.Arg81Gly
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.421A>G
  hgvsp: ENSP00000352904.2:p.Arg141Gly
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.421A>G
  hgvsp: ENSP00000433415.1:p.Arg141Gly
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.472A>G
  hgvsp: ENSP00000401656.1:p.Arg158Gly
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.241A>G
  hgvsp: ENSP00000383905.2:p.Arg81Gly
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.421A>G
  hgvsp: ENSP00000471357.1:p.Arg141Gly
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.768A>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.241A>G
  hgvsp: ENSP00000412639.2:p.Arg81Gly
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.337A>G
  variant of: http://identifiers.org/hgnc/17818
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7112
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2184
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7241
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg141Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

2-18767561-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18767561
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18767561
    reference: chr 2
allele count: 14
allele frequency: 1.153269519086611e-4
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.217C>T
  hgvsp: ENSP00000412639.2:p.Pro73Ser
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.448C>T
  hgvsp: ENSP00000401656.1:p.Pro150Ser
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.217C>T
  hgvsp: ENSP00000305979.4:p.Pro73Ser
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.397C>T
  hgvsp: ENSP00000433415.1:p.Pro133Ser
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.397C>T
  hgvsp: ENSP00000471357.1:p.Pro133Ser
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.744C>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.397C>T
  hgvsp: ENSP00000352904.2:p.Pro133Ser
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.313C>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.217C>T
  hgvsp: ENSP00000383905.2:p.Pro73Ser
  variant of: http://identifiers.org/hgnc/17818
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2183
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro133Ser
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD

2-18767563-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18767563
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18767563
    reference: chr 2
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.215C>T
  hgvsp: ENSP00000383905.2:p.Ala72Val
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.215C>T
  hgvsp: ENSP00000412639.2:p.Ala72Val
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.446C>T
  hgvsp: ENSP00000401656.1:p.Ala149Val
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.395C>T
  hgvsp: ENSP00000433415.1:p.Ala132Val
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.395C>T
  hgvsp: ENSP00000471357.1:p.Ala132Val
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.215C>T
  hgvsp: ENSP00000305979.4:p.Ala72Val
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.395C>T
  hgvsp: ENSP00000352904.2:p.Ala132Val
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.311C>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.742C>T
  variant of: http://identifiers.org/hgnc/17818
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 13724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5256
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala132Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/2-18767565-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18767565
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18767565
    reference: chr 2
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.309G>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.393G>T
  hgvsp: ENSP00000433415.1:p.Lys131Asn
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.213G>T
  hgvsp: ENSP00000412639.2:p.Lys71Asn
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.740G>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.444G>T
  hgvsp: ENSP00000401656.1:p.Lys148Asn
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.213G>T
  hgvsp: ENSP00000305979.4:p.Lys71Asn
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.393G>T
  hgvsp: ENSP00000471357.1:p.Lys131Asn
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.393G>T
  hgvsp: ENSP00000352904.2:p.Lys131Asn
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.213G>T
  hgvsp: ENSP00000383905.2:p.Lys71Asn
  variant of: http://identifiers.org/hgnc/17818
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13049
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13723
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3502
  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: 4.25e1
  variant carriers: 0
hgvs: p.Lys131Asn
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

2-18767580-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18767580
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18767580
    reference: chr 2
allele count: 5
allele frequency: 4.11868399808893e-5
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.429G>C
  hgvsp: ENST00000416783.1:c.429G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.198G>C
  hgvsp: ENST00000304081.4:c.198G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.725G>C
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.198G>C
  hgvsp: ENST00000406971.2:c.198G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.294G>C
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.378G>C
  hgvsp: ENST00000600945.1:c.378G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.378G>C
  hgvsp: ENST00000532967.1:c.378G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.198G>C
  hgvsp: ENST00000444297.2:c.198G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.378G>C
  hgvsp: ENST00000359846.2:c.378G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17818
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13730
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14598
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg126Arg
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP

2-18767581-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18767581
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18767581
    reference: chr 2
allele count: 10
allele frequency: 8.237367996177861e-5
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.377G>A
  hgvsp: ENSP00000471357.1:p.Arg126Gln
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.197G>A
  hgvsp: ENSP00000383905.2:p.Arg66Gln
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.197G>A
  hgvsp: ENSP00000412639.2:p.Arg66Gln
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.377G>A
  hgvsp: ENSP00000352904.2:p.Arg126Gln
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.197G>A
  hgvsp: ENSP00000305979.4:p.Arg66Gln
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.293G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.724G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.377G>A
  hgvsp: ENSP00000433415.1:p.Arg126Gln
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.428G>A
  hgvsp: ENSP00000401656.1:p.Arg143Gln
  variant of: http://identifiers.org/hgnc/17818
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13729
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg126Gln
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum

2-18767582-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18767582
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18767582
    reference: chr 2
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.427C>T
  hgvsp: ENSP00000401656.1:p.Arg143Trp
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.376C>T
  hgvsp: ENSP00000433415.1:p.Arg126Trp
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.196C>T
  hgvsp: ENSP00000305979.4:p.Arg66Trp
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.196C>T
  hgvsp: ENSP00000383905.2:p.Arg66Trp
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.376C>T
  hgvsp: ENSP00000352904.2:p.Arg126Trp
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.292C>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.723C>T
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.196C>T
  hgvsp: ENSP00000412639.2:p.Arg66Trp
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.376C>T
  hgvsp: ENSP00000471357.1:p.Arg126Trp
  variant of: http://identifiers.org/hgnc/17818
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3500
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5254
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg126Trp
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

2-18767594-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18767594
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18767594
    reference: chr 2
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.364T>A
  hgvsp: ENSP00000352904.2:p.Ser122Thr
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.415T>A
  hgvsp: ENSP00000401656.1:p.Ser139Thr
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.184T>A
  hgvsp: ENSP00000305979.4:p.Ser62Thr
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.184T>A
  hgvsp: ENSP00000412639.2:p.Ser62Thr
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.184T>A
  hgvsp: ENSP00000383905.2:p.Ser62Thr
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.364T>A
  hgvsp: ENSP00000471357.1:p.Ser122Thr
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.280T>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.364T>A
  hgvsp: ENSP00000433415.1:p.Ser122Thr
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.711T>A
  variant of: http://identifiers.org/hgnc/17818
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7116
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser122Thr
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

2-18767596-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18767596
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18767596
    reference: chr 2
allele count: 3
allele frequency: 2.471210398853358e-5
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.362G>C
  hgvsp: ENSP00000433415.1:p.Trp121Ser
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.278G>C
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.182G>C
  hgvsp: ENSP00000412639.2:p.Trp61Ser
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.362G>C
  hgvsp: ENSP00000352904.2:p.Trp121Ser
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.182G>C
  hgvsp: ENSP00000383905.2:p.Trp61Ser
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.182G>C
  hgvsp: ENSP00000305979.4:p.Trp61Ser
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.362G>C
  hgvsp: ENSP00000471357.1:p.Trp121Ser
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.413G>C
  hgvsp: ENSP00000401656.1:p.Trp138Ser
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.709G>C
  variant of: http://identifiers.org/hgnc/17818
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7117
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3363
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Trp121Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP

2-18767598-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18767598
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18767598
    reference: chr 2
allele count: 6
allele frequency: 4.942420797706717e-5
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.180A>G
  hgvsp: ENST00000304081.4:c.180A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.180A>G
  hgvsp: ENST00000406971.2:c.180A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.707A>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.360A>G
  hgvsp: ENST00000600945.1:c.360A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.276A>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.360A>G
  hgvsp: ENST00000359846.2:c.360A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.180A>G
  hgvsp: ENST00000444297.2:c.180A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.360A>G
  hgvsp: ENST00000532967.1:c.360A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.411A>G
  hgvsp: ENST00000416783.1:c.411A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17818
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7117
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3363
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5253
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln120Gln
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/2-18767601-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18767601
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18767601
    reference: chr 2
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.704T>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.177T>G
  hgvsp: ENSP00000412639.2:p.Ser59Arg
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.177T>G
  hgvsp: ENSP00000383905.2:p.Ser59Arg
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.177T>G
  hgvsp: ENSP00000305979.4:p.Ser59Arg
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.357T>G
  hgvsp: ENSP00000352904.2:p.Ser119Arg
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.273T>G
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.408T>G
  hgvsp: ENSP00000401656.1:p.Ser136Arg
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.357T>G
  hgvsp: ENSP00000433415.1:p.Ser119Arg
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.357T>G
  hgvsp: ENSP00000471357.1:p.Ser119Arg
  variant of: http://identifiers.org/hgnc/17818
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13747
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7258
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser119Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

2-18767602-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18767602
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 18767602
    reference: chr 2
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000352904
  ensembl transcript: ENST00000359846
  gene symbol: NT5C1B
  hgvsc: ENST00000359846.2:c.356G>A
  hgvsp: ENSP00000352904.2:p.Ser119Asn
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000401656
  ensembl transcript: ENST00000416783
  gene symbol: NT5C1B
  hgvsc: ENST00000416783.1:c.407G>A
  hgvsp: ENSP00000401656.1:p.Ser136Asn
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000412639
  ensembl transcript: ENST00000444297
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000444297.2:c.176G>A
  hgvsp: ENSP00000412639.2:p.Ser59Asn
  variant of: http://identifiers.org/hgnc/38831
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000383905
  ensembl transcript: ENST00000406971
  gene symbol: NT5C1B
  hgvsc: ENST00000406971.2:c.176G>A
  hgvsp: ENSP00000383905.2:p.Ser59Asn
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000305979
  ensembl transcript: ENST00000304081
  gene symbol: NT5C1B
  hgvsc: ENST00000304081.4:c.176G>A
  hgvsp: ENSP00000305979.4:p.Ser59Asn
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000460052
  gene symbol: NT5C1B
  hgvsc: ENST00000460052.1:n.272G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185013
  ensembl protein: ENSP00000471357
  ensembl transcript: ENST00000600945
  gene symbol: NT5C1B
  hgvsc: ENST00000600945.1:c.356G>A
  hgvsp: ENSP00000471357.1:p.Ser119Asn
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185013
  ensembl transcript: ENST00000490687
  gene symbol: NT5C1B
  hgvsc: ENST00000490687.1:n.703G>A
  variant of: http://identifiers.org/hgnc/17818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000250741
  ensembl protein: ENSP00000433415
  ensembl transcript: ENST00000532967
  gene symbol: NT5C1B-RDH14
  hgvsc: ENST00000532967.1:c.356G>A
  hgvsp: ENSP00000433415.1:p.Ser119Asn
  variant of: http://identifiers.org/hgnc/38831
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13747
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7259
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4765
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser119Asn
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 1145
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20847
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4549
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2758
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1138
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 984
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1620
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15280
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6960
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11880
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.962939698492462e-5
allele num: 50944
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9214
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4456
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7080
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.886e1

MQRankSum
type: SiteQuality
SIO_000300: 3.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.41e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.751e1

VQSLOD
type: SiteQuality
SIO_000300: 3.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.205e0

DP
type: SiteQuality
SIO_000300: 9.53761e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.41e-1

GenotypeQuality
all individuals: 180
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 282
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21027
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15949
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4376
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4495
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 975
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1588
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1086
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 381
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7074
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11792
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4426
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 5.762028233938346e-4
allele num: 6942
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9198
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 662
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50866
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.53016e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.76e0

MQRankSum
type: SiteQuality
SIO_000300: 2.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

QD
type: SiteQuality
SIO_000300: 1.706e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.33e-1

GenotypeQuality
all individuals: 15832
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4534
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4426
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2919
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 336
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 21346
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1078
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 703
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 961
bin: 4.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 656
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11780
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7038
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.951632024025923e-5
allele num: 50612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9148
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-1

MQ
type: SiteQuality
SIO_000300: 5.923e1

MQRankSum
type: SiteQuality
SIO_000300: -1.89e-1

DP
type: SiteQuality
SIO_000300: 9.45532e5

FS
type: SiteQuality
SIO_000300: 3.348e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.12e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.13e-2

QD
type: SiteQuality
SIO_000300: 8.630000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.45e-1

GenotypeQuality
all individuals: 4456
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9444
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4762
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2309
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21408
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1116
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 933
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4080
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8122
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6666
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 6.211180124223603e-4
allele num: 6440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46992
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.408e0

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

FS
type: SiteQuality
SIO_000300: 2.653e0

DP
type: SiteQuality
SIO_000300: 8.60555e5

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.64e-2

QD
type: SiteQuality
SIO_000300: 1.552e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 301
bin: 7.25e1
variant carriers: 60

GenotypeQuality
all individuals: 127
bin: 8.75e1
variant carriers: 94

GenotypeQuality
all individuals: 5282
bin: 9.75e1
variant carriers: 5105

GenotypeQuality
all individuals: 273
bin: 5.75e1
variant carriers: 58

GenotypeQuality
all individuals: 4249
bin: 7.5e0
variant carriers: 32

GenotypeQuality
all individuals: 115
bin: 9.25e1
variant carriers: 70

GenotypeQuality
all individuals: 723
bin: 4.75e1
variant carriers: 65

GenotypeQuality
all individuals: 4456
bin: 3.25e1
variant carriers: 34

GenotypeQuality
all individuals: 933
bin: 1.25e1
variant carriers: 35

GenotypeQuality
all individuals: 840
bin: 2.5e0
variant carriers: 10

GenotypeQuality
all individuals: 9444
bin: 6.25e1
variant carriers: 56

GenotypeQuality
all individuals: 1116
bin: 6.75e1
variant carriers: 60

GenotypeQuality
all individuals: 609
bin: 5.25e1
variant carriers: 67

GenotypeQuality
all individuals: 186
bin: 8.25e1
variant carriers: 84

Latino
type: Population
allele count: 1671
allele frequency: 2.057375030780596e-1
allele num: 8122
num of homozygotes: 154

Other
type: Population
allele count: 50
allele frequency: 8.169934640522876e-2
allele num: 612
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 503
allele frequency: 1.232843137254902e-1
allele num: 4080
num of homozygotes: 21

East Asian
type: Population
allele count: 494
allele frequency: 7.670807453416149e-2
allele num: 6440
num of homozygotes: 10

South Asian
type: Population
allele count: 160
allele frequency: 1.524971406786123e-2
allele num: 10492
num of homozygotes: 1

African
type: Population
allele count: 64
allele frequency: 9.600960096009602e-3
allele num: 6666
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2865
allele frequency: 6.096782431052094e-2
allele num: 46992
num of homozygotes: 84

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

FS
type: SiteQuality
SIO_000300: 2.653e0

DP
type: SiteQuality
SIO_000300: 8.60555e5

QD
type: SiteQuality
SIO_000300: 1.552e1

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.408e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.64e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

GenotypeQuality
all individuals: 847
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23219
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 776
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 872
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1496
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1466
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7835
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7254
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9750
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6444
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6014
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.254791431792559e-5
allele num: 44350
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3782
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 7.89079e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.432e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.76e-1

FS
type: SiteQuality
SIO_000300: 7.782e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.25e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.453e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.76e-1

QD
type: SiteQuality
SIO_000300: 9.300000000000001e0

GenotypeQuality
all individuals: 21434
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1195
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6530
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5685
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1092
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5741
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5531
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 825
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.364401569962643e-5
allele num: 42294
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6770
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3602
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9092
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6180
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 538
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.75e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.91e-1

DP
type: SiteQuality
SIO_000300: 7.63178e5

BaseQRankSum
type: SiteQuality
SIO_000300: 3.91e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.54e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.66e-1

FS
type: SiteQuality
SIO_000300: 4.123e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.33e-1

QD
type: SiteQuality
SIO_000300: 1.619e1

GenotypeQuality
all individuals: 21562
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2633
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 947
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5468
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1178
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 785
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5596
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42018
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6180
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8876
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.136e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.355e0

DP
type: SiteQuality
SIO_000300: 7.50055e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.47e-2

QD
type: SiteQuality
SIO_000300: 1.607e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQRankSum
type: SiteQuality
SIO_000300: -1.355e0

VQSLOD
type: SiteQuality
SIO_000300: -2.794e0

MQ
type: SiteQuality
SIO_000300: 5.875e1

GenotypeQuality
all individuals: 3219
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6985
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 51
bin: 8.75e1
variant carriers: 4

GenotypeQuality
all individuals: 164
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1283
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4758
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variant carriers: 0

GenotypeQuality
all individuals: 2329
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 9.75e1
variant carriers: 87

GenotypeQuality
all individuals: 62
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 5708
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 983
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 215
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 744
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 114
bin: 8.25e1
variant carriers: 1

East Asian
type: Population
allele count: 67
allele frequency: 1.232070614196396e-2
allele num: 5438
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 4.065040650406504e-3
allele num: 492
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 3.165558721114277e-4
allele num: 6318
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6018
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.972872996300863e-4
allele num: 40550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.910360884749709e-4
allele num: 3436
num of homozygotes: 0

South Asian
type: Population
allele count: 12
allele frequency: 1.413760603204524e-3
allele num: 8488
num of homozygotes: 1

DP
type: SiteQuality
SIO_000300: 7.45872e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.646e0

QD
type: SiteQuality
SIO_000300: 1.223e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

GenotypeQuality
all individuals: 2843
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21007
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5782
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2258
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1053
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3081
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 828
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5045
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variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 9.75e1
variant carriers: 5

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5452
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6038
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40848
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 4.694835680751174e-4
allele num: 8520
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3454
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6326
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

FS
type: SiteQuality
SIO_000300: 4.791e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.62e-2

QD
type: SiteQuality
SIO_000300: 1.109e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

DP
type: SiteQuality
SIO_000300: 7.41577e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2079
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2781
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 61
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22071
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 809
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variant carriers: 0

GenotypeQuality
all individuals: 5601
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1881
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variant carriers: 0

GenotypeQuality
all individuals: 5665
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1019
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6476
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3416
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7842
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6042
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6062
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5228
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.511048613901165e-5
allele num: 39824
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.56e-2

DP
type: SiteQuality
SIO_000300: 7.32707e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.356e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e-1

QD
type: SiteQuality
SIO_000300: 1.436e1

VQSLOD
type: SiteQuality
SIO_000300: 3.74e0

MQ
type: SiteQuality
SIO_000300: 5.395e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.4e-2

GenotypeQuality
all individuals: 763
bin: 4.75e1
variant carriers: 9

GenotypeQuality
all individuals: 484
bin: 5.25e1
variant carriers: 10

GenotypeQuality
all individuals: 246
bin: 7.75e1
variant carriers: 12

GenotypeQuality
all individuals: 6645
bin: 6.25e1
variant carriers: 4

GenotypeQuality
all individuals: 1893
bin: 1.75e1
variant carriers: 8

GenotypeQuality
all individuals: 2697
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 21931
bin: 2.25e1
variant carriers: 4

GenotypeQuality
all individuals: 1823
bin: 1.25e1
variant carriers: 5

GenotypeQuality
all individuals: 92
bin: 9.25e1
variant carriers: 16

GenotypeQuality
all individuals: 777
bin: 9.75e1
variant carriers: 476

GenotypeQuality
all individuals: 775
bin: 4.25e1
variant carriers: 8

GenotypeQuality
all individuals: 5560
bin: 2.75e1
variant carriers: 5

GenotypeQuality
all individuals: 323
bin: 7.25e1
variant carriers: 8

GenotypeQuality
all individuals: 164
bin: 8.25e1
variant carriers: 18

African
type: Population
allele count: 1
allele frequency: 1.653986106516705e-4
allele num: 6046
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 28
allele frequency: 7.038005228232455e-4
allele num: 39784
num of homozygotes: 0

Other
type: Population
allele count: 6
allele frequency: 1.239669421487603e-2
allele num: 484
num of homozygotes: 0

South Asian
type: Population
allele count: 13
allele frequency: 1.690946930280957e-3
allele num: 7688
num of homozygotes: 0

East Asian
type: Population
allele count: 220
allele frequency: 4.219409282700422e-2
allele num: 5214
num of homozygotes: 3

Latino
type: Population
allele count: 206
allele frequency: 3.404958677685951e-2
allele num: 6050
num of homozygotes: 4

European (Finnish)
type: Population
allele count: 11
allele frequency: 3.170028818443804e-3
allele num: 3470
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.47e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.36568e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.800000000000001e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.343e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

GenotypeQuality
all individuals: 149
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2094
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20810
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5676
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 970
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5594
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 889
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1029
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5549
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 299
bin: 9.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3472
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6062
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.333688983728994e-4
allele num: 7498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5168
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.61e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -7.679999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.531e0

QD
type: SiteQuality
SIO_000300: 1.207e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.64e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.36843e5

GenotypeQuality
all individuals: 994
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21125
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7432
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1028
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2614
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 961
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 875
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6030
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5577
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5830
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.532543179861217e-5
allele num: 39486
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6020
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5162
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.547e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.66e-2

DP
type: SiteQuality
SIO_000300: 7.38453e5

MQRankSum
type: SiteQuality
SIO_000300: -1.246e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.398e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

QD
type: SiteQuality
SIO_000300: 4.18e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 165
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5416
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7418
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 674
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 906
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1110
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2800
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5534
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 75
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1026
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6513
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5192
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 484
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5862
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.533056385835149e-5
allele num: 39478
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6034
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.72e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.101e0

DP
type: SiteQuality
SIO_000300: 7.40932e5

MQRankSum
type: SiteQuality
SIO_000300: 9.81e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.142e0

QD
type: SiteQuality
SIO_000300: 1.429e1

VQSLOD
type: SiteQuality
SIO_000300: 4.61e-1

GenotypeQuality
all individuals: 301
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 579
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2013
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 885
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5394
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1001
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5552
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21746
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6763
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1055
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5216
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.524742476267421e-5
allele num: 39608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6064
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 490
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5870
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3518
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.101e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.68e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.15e0

DP
type: SiteQuality
SIO_000300: 7.41867e5

FS
type: SiteQuality
SIO_000300: 5.441e0

QD
type: SiteQuality
SIO_000300: 1.11e1

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQ
type: SiteQuality
SIO_000300: 5.766e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.453e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e0

GenotypeQuality
all individuals: 895
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 5543
bin: 2.75e1
variant carriers: 3

GenotypeQuality
all individuals: 169
bin: 5.75e1
variant carriers: 10

GenotypeQuality
all individuals: 958
bin: 4.25e1
variant carriers: 4

GenotypeQuality
all individuals: 1971
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 78
bin: 8.75e1
variant carriers: 6

GenotypeQuality
all individuals: 2863
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 174
bin: 8.25e1
variant carriers: 5

GenotypeQuality
all individuals: 1897
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 640
bin: 9.75e1
variant carriers: 322

GenotypeQuality
all individuals: 960
bin: 4.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1220
bin: 6.75e1
variant carriers: 8

GenotypeQuality
all individuals: 98
bin: 9.25e1
variant carriers: 9

GenotypeQuality
all individuals: 6857
bin: 6.25e1
variant carriers: 14

African
type: Population
allele count: 330
allele frequency: 5.351929938371716e-2
allele num: 6166
num of homozygotes: 11

Latino
type: Population
allele count: 17
allele frequency: 2.893124574540504e-3
allele num: 5876
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.510922512931251e-5
allele num: 39826
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5234
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.34e0

FS
type: SiteQuality
SIO_000300: 5.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.6e-3

DP
type: SiteQuality
SIO_000300: 7.4989e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.388e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

GenotypeQuality
all individuals: 360
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9225
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1597
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20481
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2767
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 919
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6268
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5130
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 637
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1571
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1710
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5197
bin: 2.75e1
variant carriers: 1

East Asian
type: Population
allele count: 1
allele frequency: 1.876172607879925e-4
allele num: 5330
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6320
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40790
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3982
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6104
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7258
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.37e-2

QD
type: SiteQuality
SIO_000300: 2.385e1

VQSLOD
type: SiteQuality
SIO_000300: -2.572e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.073e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.98416e5

GenotypeQuality
all individuals: 5101
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9444
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1689
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20233
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1532
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1148
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1044
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5062
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1722
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 9.25e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4040
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.418379685610641e-5
allele num: 41350
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7300
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6244
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5346
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

MQRankSum
type: SiteQuality
SIO_000300: -5.6e-2

DP
type: SiteQuality
SIO_000300: 8.10032e5

FS
type: SiteQuality
SIO_000300: 1.609e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.485e0

VQSLOD
type: SiteQuality
SIO_000300: 5.79e-1

GenotypeQuality
all individuals: 95
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 924
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19626
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1101
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5334
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2131
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2386
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 283
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 815
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4322
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6636
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.325908247149297e-4
allele num: 7542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43248
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5564
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4302
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 532
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.244e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.68029e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

FS
type: SiteQuality
SIO_000300: 3.431e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.33e-2

QD
type: SiteQuality
SIO_000300: 8.06e0

GenotypeQuality
all individuals: 138
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 715
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3937
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5125
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15748
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4068
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2411
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 615
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6748
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 534
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4424
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6732
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5632
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.545454545454545e-5
allele num: 44000
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.906e0

QD
type: SiteQuality
SIO_000300: 1.059e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.05e-2

DP
type: SiteQuality
SIO_000300: 8.88669e5

MQRankSum
type: SiteQuality
SIO_000300: 5.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.54e-1

GenotypeQuality
all individuals: 466
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4191
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16474
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 937
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 920
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3281
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2876
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8006
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.113628677713899e-5
allele num: 47312
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7234
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4904
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6038
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.016e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.85831e5

FS
type: SiteQuality
SIO_000300: 2.522e0

QD
type: SiteQuality
SIO_000300: 8.75e0

GenotypeQuality
all individuals: 673
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15154
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2439
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2351
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1084
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3709
bin: 6.75e1
variant carriers: 1

Latino
type: Population
allele count: 1
allele frequency: 1.254390366281987e-4
allele num: 7972
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6224
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8212
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5116
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48818
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.309e0

QD
type: SiteQuality
SIO_000300: 3.57e0

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.38e-1

FS
type: SiteQuality
SIO_000300: 4.227e0

DP
type: SiteQuality
SIO_000300: 1.024784e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3530
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1112
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1964
bin: 2.75e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 25679
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variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 1.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.54273372415921e-4
allele num: 6482
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7718
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5384
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50776
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.025e0

FS
type: SiteQuality
SIO_000300: 3.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-3

QD
type: SiteQuality
SIO_000300: 1.642e1

DP
type: SiteQuality
SIO_000300: 1.075077e6

VQSLOD
type: SiteQuality
SIO_000300: -1.997e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

GenotypeQuality
all individuals: 231
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1890
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1989
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.025010250102501e-4
allele num: 9756
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57432
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.361655773420479e-4
allele num: 7344
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10410
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6252
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.248889e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.33e-1

FS
type: SiteQuality
SIO_000300: 1.859e0

QD
type: SiteQuality
SIO_000300: 1.19e1

GenotypeQuality
all individuals: 710
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
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GenotypeQuality
all individuals: 2501
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 751
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7131
bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9986
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58408
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7448
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.879345987596316e-4
allele num: 10642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8760
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.16e-1

QD
type: SiteQuality
SIO_000300: 6.94e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 6.107e1

MQRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.38e-1

DP
type: SiteQuality
SIO_000300: 1.269827e6

VQSLOD
type: SiteQuality
SIO_000300: 4.45e0

GenotypeQuality
all individuals: 192
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6153
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 649
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 250
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variant carriers: 0

GenotypeQuality
all individuals: 1698
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 696
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 34424
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.192866335723479e-5
allele num: 10878
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7602
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8926
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59554
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.32e0

DP
type: SiteQuality
SIO_000300: 1.299647e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.56e-1

MQ
type: SiteQuality
SIO_000300: 5.886e1

FS
type: SiteQuality
SIO_000300: 1.0e0

QD
type: SiteQuality
SIO_000300: 1.386e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.15e-1

GenotypeQuality
all individuals: 1854
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6685
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1094
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 346
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variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 645
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11098
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60774
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9036
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.281394156842645e-4
allele num: 7804
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.324245e6

MQRankSum
type: SiteQuality
SIO_000300: 6.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.95e-1

FS
type: SiteQuality
SIO_000300: 3.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.553e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e0

QD
type: SiteQuality
SIO_000300: 1.451e1

VQSLOD
type: SiteQuality
SIO_000300: 7.73e-1

GenotypeQuality
all individuals: 825
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2302
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 4.25e1
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GenotypeQuality
all individuals: 5187
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
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GenotypeQuality
all individuals: 183
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1867
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.640043297143045e-5
allele num: 60974
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10954
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7830
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9046
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.256e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.4e-2

MQRankSum
type: SiteQuality
SIO_000300: -8.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.43e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.329167e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -6.35e0

GenotypeQuality
all individuals: 193
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2811
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
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GenotypeQuality
all individuals: 5027
bin: 2.25e1
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GenotypeQuality
all individuals: 495
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GenotypeQuality
all individuals: 83
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GenotypeQuality
all individuals: 565
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 665
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GenotypeQuality
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GenotypeQuality
all individuals: 837
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variant carriers: 1

GenotypeQuality
all individuals: 2312
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.633453119895459e-5
allele num: 61220
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7880
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9070
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11152
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11182
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.5e0

MQRankSum
type: SiteQuality
SIO_000300: 2.43e-1

FS
type: SiteQuality
SIO_000300: 5.956e0

DP
type: SiteQuality
SIO_000300: 1.333641e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.96e0

VQSLOD
type: SiteQuality
SIO_000300: 7.83e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.082e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.75e-1

GenotypeQuality
all individuals: 190
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 321
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GenotypeQuality
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GenotypeQuality
all individuals: 92
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GenotypeQuality
all individuals: 888
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variant carriers: 19

GenotypeQuality
all individuals: 108
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GenotypeQuality
all individuals: 36065
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GenotypeQuality
all individuals: 158
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2862
bin: 7.75e1
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GenotypeQuality
all individuals: 121
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11252
num of homozygotes: 0

East Asian
type: Population
allele count: 16
allele frequency: 1.999000499750125e-3
allele num: 8004
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9124
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11684
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.849190185239065e-5
allele num: 61866
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.498e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.52e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.25e0

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

DP
type: SiteQuality
SIO_000300: 1.347863e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

GenotypeQuality
all individuals: 535
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6851
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4211
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 901
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2870
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2357
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36282
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 794
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8032
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.613423685059697e-5
allele num: 61980
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9138
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11278
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11886
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.217e0

DP
type: SiteQuality
SIO_000300: 1.350891e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.018e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.38e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.541e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.340000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
type: SiteQuality
SIO_000300: 1.757e1

GenotypeQuality
all individuals: 2419
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 751
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 722
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2015
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 838
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6961
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62702
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

East Asian
type: Population
allele count: 21
allele frequency: 2.571638501102131e-3
allele num: 8166
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9198
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12778
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.46e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.24e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.89e-1

DP
type: SiteQuality
SIO_000300: 1.369078e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-2

GenotypeQuality
all individuals: 141
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2021
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 749
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6972
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2430
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 970
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 214
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.775549188156638e-5
allele num: 62820
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9212
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8184
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.70891150169596e-5
allele num: 12972
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11386
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.64e1

MQRankSum
type: SiteQuality
SIO_000300: -2.82e-1

DP
type: SiteQuality
SIO_000300: 1.373873e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.31e-1

GenotypeQuality
all individuals: 738
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36901
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2452
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2971
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2031
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2889
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 988
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 213
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7017
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 842
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13174
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9224
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11390
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.174804749507905e-5
allele num: 62996
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.661e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.273e0

MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

FS
type: SiteQuality
SIO_000300: 7.641e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

DP
type: SiteQuality
SIO_000300: 1.377963e6

VQSLOD
type: SiteQuality
SIO_000300: 7.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

GenotypeQuality
all individuals: 69
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2452
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 231
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2750
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 854
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2986
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2032
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1273
bin: 9.75e1
variant carriers: 273

GenotypeQuality
all individuals: 511
bin: 3.25e1
variant carriers: 1

Latino
type: Population
allele count: 24
allele frequency: 2.103786816269285e-3
allele num: 11408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 2.693453324038279e-4
allele num: 63116
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.503001200480192e-5
allele num: 13328
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.605769230769231e-3
allele num: 832
num of homozygotes: 0

African
type: Population
allele count: 228
allele frequency: 2.467532467532468e-2
allele num: 9240
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8224
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.98e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.96e-1

FS
type: SiteQuality
SIO_000300: 1.0e0

DP
type: SiteQuality
SIO_000300: 1.391299e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.54e0

MQRankSum
type: SiteQuality
SIO_000300: 3.17e-1

QD
type: SiteQuality
SIO_000300: 1.481e1

GenotypeQuality
all individuals: 95
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 113
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 976
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1112
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 6.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 53062
bin: 9.75e1
variant carriers: 231

GenotypeQuality
all individuals: 505
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 452
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 1

Latino
type: Population
allele count: 5
allele frequency: 4.371393600279769e-4
allele num: 11438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 220
allele frequency: 3.498727735368957e-3
allele num: 62880
num of homozygotes: 6

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8278
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.336448598130841e-3
allele num: 856
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16394
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 1.15473441108545e-3
allele num: 8660
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.14e-1

QD
type: SiteQuality
SIO_000300: 1.364e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.93e0

DP
type: SiteQuality
SIO_000300: 8.248758e6

MQ
type: SiteQuality
SIO_000300: 5.976e1

FS
type: SiteQuality
SIO_000300: 6.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.91e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.913e0

GenotypeQuality
all individuals: 110
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1062
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 573
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52990
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16384
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8272
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.11731843575419e-4
allele num: 62650
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 6.19e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

DP
type: SiteQuality
SIO_000300: 8.242906e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-2

QD
type: SiteQuality
SIO_000300: 1.303e1

FS
type: SiteQuality
SIO_000300: 1.307e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e-1

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52989
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 932
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 302
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 499
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16346
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8250
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.037667071688943e-4
allele num: 6584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.606941989394183e-5
allele num: 62230
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.175e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

DP
type: SiteQuality
SIO_000300: 8.236569e6

VQSLOD
type: SiteQuality
SIO_000300: 2.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.57e0

MQRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-1

QD
type: SiteQuality
SIO_000300: 1.224e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.95e-1

GenotypeQuality
all individuals: 547
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 499
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 980
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 932
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52989
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 302
bin: 8.75e1
variant carriers: 0

South Asian
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allele frequency: 6.117704637220115e-5
allele num: 16346
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.606941989394183e-5
allele num: 62230
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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QD
type: SiteQuality
SIO_000300: 1.224e1

FS
type: SiteQuality
SIO_000300: 1.175e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.08e0

MQRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.57e0

DP
type: SiteQuality
SIO_000300: 8.236569e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.216571777799222e-5
allele num: 62178
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11406
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8370
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: -9.2e-2

MQ
type: SiteQuality
SIO_000300: 5.984e1

VQSLOD
type: SiteQuality
SIO_000300: 4.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e0

ClippingRankSum
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DP
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SIO_000300: 8.236058e6

FS
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BaseQRankSum
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SIO_000300: 5.9e0

QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6582
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8220
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61778
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8250
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South Asian
type: Population
allele count: 1
allele frequency: 6.145526057030482e-5
allele num: 16272
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.285e0

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.66e-1

DP
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SIO_000300: 8.229362e6

MQRankSum
type: SiteQuality
SIO_000300: 2.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

ReadPosRankSum
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SIO_000300: 9.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.659e0

QD
type: SiteQuality
SIO_000300: 1.302e1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.62295507660348e-5
allele num: 61616
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8212
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11368
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.567e0

DP
type: SiteQuality
SIO_000300: 8.225221e6

VQSLOD
type: SiteQuality
SIO_000300: -2.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

FS
type: SiteQuality
SIO_000300: 4.058e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.99e0

MQRankSum
type: SiteQuality
SIO_000300: 1.84e0

QD
type: SiteQuality
SIO_000300: 1.579e1

MQ
type: SiteQuality
SIO_000300: 5.977e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6582
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16218
num of homozygotes: 0

European (Non-Finnish)
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allele count: 7
allele frequency: 1.136400532484821e-4
allele num: 61598
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8190
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11368
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8208
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.909999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.98e1

QD
type: SiteQuality
SIO_000300: 1.416e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

MQRankSum
type: SiteQuality
SIO_000300: -3.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -8.37e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 8186
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11366
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

East Asian
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allele frequency: 1.218323586744639e-4
allele num: 8208
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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61592
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 8.34e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.936e1

BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e-1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.55e-1

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8208
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.623534759879209e-5
allele num: 61594
num of homozygotes: 0

South Asian
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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VQSLOD
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BaseQRankSum
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MQ
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 8.223441e6

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele frequency: 0.0e0
allele num: 8208
num of homozygotes: 0

South Asian
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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

European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 1.221597849987784e-4
allele num: 8186
num of homozygotes: 0

European (Non-Finnish)
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allele num: 61594
num of homozygotes: 0

Other
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QD
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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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MQ
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BaseQRankSum
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 1.730103806228374e-4
allele num: 11560
num of homozygotes: 0

East Asian
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South Asian
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Other
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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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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InbreedingCoeff
type: SiteQuality
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QD
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ReadPosRankSum
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VQSLOD
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DP
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MQ
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FS
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 14625
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507658907248824e-5
allele num: 66328
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15490
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.55e0

MQ
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SIO_000300: 6.0e1

ReadPosRankSum
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SIO_000300: -1.247e0

MQRankSum
type: SiteQuality
SIO_000300: 6.35e-1

DP
type: SiteQuality
SIO_000300: 2.208626e6

FS
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SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

QD
type: SiteQuality
SIO_000300: 1.609e1

VQSLOD
type: SiteQuality
SIO_000300: 2.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.62e-1

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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: 66348
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

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

DP
type: SiteQuality
SIO_000300: 2.210179e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.23e-1

FS
type: SiteQuality
SIO_000300: 5.017e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e0

QD
type: SiteQuality
SIO_000300: 1.504e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 33

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

African
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allele count: 32
allele frequency: 3.076923076923077e-3
allele num: 10400
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66350
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15598
num of homozygotes: 0

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.88e-1

DP
type: SiteQuality
SIO_000300: 2.212059e6

MQRankSum
type: SiteQuality
SIO_000300: 4.42e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.84e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15754
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-3

FS
type: SiteQuality
SIO_000300: 4.626e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e0

VQSLOD
type: SiteQuality
SIO_000300: 5.570000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.319e0

QD
type: SiteQuality
SIO_000300: 1.477e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

DP
type: SiteQuality
SIO_000300: 2.217818e6

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506205566935775e-5
allele num: 66392
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15782
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.075e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.096e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.108e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.193e0

DP
type: SiteQuality
SIO_000300: 2.219942e6

QD
type: SiteQuality
SIO_000300: 1.296e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e0

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15964
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.513585893539554e-5
allele num: 66466
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 7.54e-1

FS
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.972e1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -4.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.199e1

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

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

African
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allele frequency: 9.609840476648087e-5
allele num: 10406
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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66582
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.4e-2

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
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QD
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

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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bin: 9.75e1
variant carriers: 3

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500240038406145e-5
allele num: 66656
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.178e0

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.237667e6

MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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QD
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

African
type: Population
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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num of homozygotes: 0

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South Asian
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European (Non-Finnish)
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Latino
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ClippingRankSum
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ReadPosRankSum
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FS
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VQSLOD
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BaseQRankSum
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MQRankSum
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MQ
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QD
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InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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African
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European (Non-Finnish)
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Latino
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South Asian
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FS
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DP
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MQRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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BaseQRankSum
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ClippingRankSum
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QD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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South Asian
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African
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Other
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European (Non-Finnish)
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VQSLOD
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ReadPosRankSum
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QD
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FS
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MQ
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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Other
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East Asian
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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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MQRankSum
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BaseQRankSum
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FS
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ReadPosRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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South Asian
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East Asian
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European (Finnish)
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Latino
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Other
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QD
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FS
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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VQSLOD
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DP
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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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East 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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European (Finnish)
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ReadPosRankSum
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FS
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ClippingRankSum
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VQSLOD
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MQRankSum
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QD
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BaseQRankSum
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DP
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InbreedingCoeff
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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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East Asian
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European (Finnish)
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Other
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South Asian
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European (Non-Finnish)
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Latino
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InbreedingCoeff
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MQRankSum
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VQSLOD
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ReadPosRankSum
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FS
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MQ
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BaseQRankSum
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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South Asian
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East Asian
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European (Finnish)
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European (Non-Finnish)
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MQ
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QD
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BaseQRankSum
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DP
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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VQSLOD
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MQRankSum
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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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South Asian
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European (Non-Finnish)
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East Asian
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Latino
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MQ
type: SiteQuality
SIO_000300: 5.944e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.62e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

QD
type: SiteQuality
SIO_000300: 1.278e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.97e0

VQSLOD
type: SiteQuality
SIO_000300: 8.41e-1

DP
type: SiteQuality
SIO_000300: 2.240146e6

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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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: 6.75e1
variant carriers: 0

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

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

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

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

Latino
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allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66732
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: 1.758e0

MQRankSum
type: SiteQuality
SIO_000300: -1.096e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.909999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e-1

QD
type: SiteQuality
SIO_000300: 1.257e1

DP
type: SiteQuality
SIO_000300: 2.240029e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.495729057395475e-5
allele num: 66730
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.361e1

MQ
type: SiteQuality
SIO_000300: 5.975e1

VQSLOD
type: SiteQuality
SIO_000300: -3.265e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.379e0

MQRankSum
type: SiteQuality
SIO_000300: 9.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.434e0

FS
type: SiteQuality
SIO_000300: 2.769e0

DP
type: SiteQuality
SIO_000300: 2.240132e6

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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

Latino
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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

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

European (Non-Finnish)
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allele count: 6
allele frequency: 8.991458114790949e-5
allele num: 66730
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.114e0

DP
type: SiteQuality
SIO_000300: 2.240254e6

VQSLOD
type: SiteQuality
SIO_000300: 7.7e-1

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.966e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.72e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -7.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.74e-1

QD
type: SiteQuality
SIO_000300: 1.545e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
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)
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allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

FS
type: SiteQuality
SIO_000300: 2.296e0

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-1

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 4.23e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0