17-13503816-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13503816
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 13503816
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 42024
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153976
  ensembl protein: ENSP00000284110
  ensembl transcript: ENST00000284110
  gene symbol: HS3ST3A1
  hgvsc: ENST00000284110.1:c.599+32G>C
  variant of: http://identifiers.org/hgnc/5196
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9824
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2509
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3010
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3634
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6526
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-13503828-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13503828
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 13503828
    reference: chr 17
allele count: 1
allele frequency: 2.193174839898237e-5
allele num: 45596
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153976
  ensembl protein: ENSP00000284110
  ensembl transcript: ENST00000284110
  gene symbol: HS3ST3A1
  hgvsc: ENST00000284110.1:c.599+20G>T
  variant of: http://identifiers.org/hgnc/5196
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6677
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2003
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genotype quality: GenotypeQuality
  all individuals: 373
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 636
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 25602
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 290
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4166
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

17-13503831-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13503831
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 13503831
    reference: chr 17
allele count: 343
allele frequency: 7.16374269005848e-3
allele num: 47880
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153976
  ensembl protein: ENSP00000284110
  ensembl transcript: ENST00000284110
  gene symbol: HS3ST3A1
  hgvsc: ENST00000284110.1:c.599+17C>T
  variant of: http://identifiers.org/hgnc/5196
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 10
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
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  variant carriers: 16
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  variant carriers: 2
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 750
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 11
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  variant carriers: 9
num of homozygotes: 1
population: European (Non-Finnish)
  type: Population
  allele count: 308
  allele frequency: 1.145748084219924e-2
  allele num: 26882
  num of homozygotes: 1
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4038
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 11
  allele frequency: 7.902298850574713e-3
  allele num: 1392
  num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-13503834-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13503834
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 13503834
    reference: chr 17
allele count: 1
allele frequency: 1.998720818676047e-5
allele num: 50032
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153976
  ensembl protein: ENSP00000284110
  ensembl transcript: ENST00000284110
  gene symbol: HS3ST3A1
  hgvsc: ENST00000284110.1:c.599+14G>T
  variant of: http://identifiers.org/hgnc/5196
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 3.558465589637748e-5
  allele num: 28102
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
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  allele num: 4212
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 340
  num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

17-13503842-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13503842
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 13503842
    reference: chr 17
allele count: 2
allele frequency: 3.491985892376995e-5
allele num: 57274
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153976
  ensembl protein: ENSP00000284110
  ensembl transcript: ENST00000284110
  gene symbol: HS3ST3A1
  hgvsc: ENST00000284110.1:c.599+6C>T
  variant of: http://identifiers.org/hgnc/5196
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4827
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 737
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25704
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15241
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 543
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 857
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
hgvs: c.599+6C>T
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3846
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 2
  allele frequency: 2.189141856392294e-4
  allele num: 9136
  num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

17-13503849-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13503849
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 13503849
    reference: chr 17
allele count: 2
allele frequency: 3.118081756103645e-5
allele num: 64142
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000153976
  ensembl protein: ENSP00000284110
  ensembl transcript: ENST00000284110
  gene symbol: HS3ST3A1
  hgvsc: ENST00000284110.1:c.598C>A
  hgvsp: ENST00000284110.1:c.598C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5196
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20177
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 12
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4211
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hgvs: c.598C>A
num of homozygotes: 0
population: African
  type: Population
  allele count: 2
  allele frequency: 4.782400765184123e-4
  allele num: 4182
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6084
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

17-13503857-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13503857
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 13503857
    reference: chr 17
allele count: 1
allele frequency: 1.429061392477421e-5
allele num: 69976
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153976
  ensembl protein: ENSP00000284110
  ensembl transcript: ENST00000284110
  gene symbol: HS3ST3A1
  hgvsc: ENST00000284110.1:c.590C>T
  hgvsp: ENSP00000284110.1:p.Ala197Val
  variant of: http://identifiers.org/hgnc/5196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1372
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hgvs: p.Ala197Val
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 488
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6724
  num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-13503870-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13503870
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 13503870
    reference: chr 17
allele count: 2
allele frequency: 2.572876733475699e-5
allele num: 77734
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153976
  ensembl protein: ENSP00000284110
  ensembl transcript: ENST00000284110
  gene symbol: HS3ST3A1
  hgvsc: ENST00000284110.1:c.577G>C
  hgvsp: ENSP00000284110.1:p.Asp193His
  variant of: http://identifiers.org/hgnc/5196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 841
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 558
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hgvs: p.Asp193His
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 518
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 43464
  num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

17-13503871-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13503871
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 13503871
    reference: chr 17
allele count: 1
allele frequency: 1.279525040305039e-5
allele num: 78154
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000153976
  ensembl protein: ENSP00000284110
  ensembl transcript: ENST00000284110
  gene symbol: HS3ST3A1
  hgvsc: ENST00000284110.1:c.576C>T
  hgvsp: ENST00000284110.1:c.576C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5196
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4986
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Tyr192Tyr
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 520
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 12454
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

17-13503877-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13503877
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 13503877
    reference: chr 17
allele count: 1
allele frequency: 1.24962511246626e-5
allele num: 80024
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000153976
  ensembl protein: ENSP00000284110
  ensembl transcript: ENST00000284110
  gene symbol: HS3ST3A1
  hgvsc: ENST00000284110.1:c.570C>A
  hgvsp: ENST00000284110.1:c.570C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5196
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4868
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28369
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3401
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1433
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29934
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3345
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17900
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg190Arg
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 12692
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 2.235835979072575e-5
  allele num: 44726
  num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD

17-13503879-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13503879
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 13503879
    reference: chr 17
allele count: 1
allele frequency: 1.246261216350947e-5
allele num: 80240
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153976
  ensembl protein: ENSP00000284110
  ensembl transcript: ENST00000284110
  gene symbol: HS3ST3A1
  hgvsc: ENST00000284110.1:c.568C>G
  hgvsp: ENSP00000284110.1:p.Arg190Gly
  variant of: http://identifiers.org/hgnc/5196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5024
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28022
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29547
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17860
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1451
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1807
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3371
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 424
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 363
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genotype quality: GenotypeQuality
  all individuals: 684
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg190Gly
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 44854
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5150
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD

17-13503882-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13503882
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 13503882
    reference: chr 17
allele count: 1
allele frequency: 1.238604835513278e-5
allele num: 80736
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153976
  ensembl protein: ENSP00000284110
  ensembl transcript: ENST00000284110
  gene symbol: HS3ST3A1
  hgvsc: ENST00000284110.1:c.565G>C
  hgvsp: ENSP00000284110.1:p.Asp189His
  variant of: http://identifiers.org/hgnc/5196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5056
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28053
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15928
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5323
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30147
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17869
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
  all individuals: 64
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 366
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genotype quality: GenotypeQuality
  all individuals: 299
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 433
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1842
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 544
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  variant carriers: 0
hgvs: p.Asp189His
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2764
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.586294416243655e-4
  allele num: 6304
  num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP

17-13503897-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13503897
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 13503897
    reference: chr 17
allele count: 3
allele frequency: 3.886111039146092e-5
allele num: 77198
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153976
  ensembl protein: ENSP00000284110
  ensembl transcript: ENST00000284110
  gene symbol: HS3ST3A1
  hgvsc: ENST00000284110.1:c.550G>A
  hgvsp: ENSP00000284110.1:p.Glu184Lys
  variant of: http://identifiers.org/hgnc/5196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3930
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16845
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20974
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5608
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3688
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 12
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genotype quality: GenotypeQuality
  all individuals: 1588
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  variant carriers: 0
hgvs: p.Glu184Lys
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4934
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2574
  num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

17-13503898-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13503898
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 13503898
    reference: chr 17
allele count: 3
allele frequency: 3.884199078150085e-5
allele num: 77236
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000153976
  ensembl protein: ENSP00000284110
  ensembl transcript: ENST00000284110
  gene symbol: HS3ST3A1
  hgvsc: ENST00000284110.1:c.549C>G
  hgvsp: ENST00000284110.1:c.549C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5196
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21081
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16824
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3551
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1829
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19591
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2076
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21424
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala183Ala
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 12650
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6012
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD

17-13503901-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13503901
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 13503901
    reference: chr 17
allele count: 1
allele frequency: 1.290922234844573e-5
allele num: 77464
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000153976
  ensembl protein: ENSP00000284110
  ensembl transcript: ENST00000284110
  gene symbol: HS3ST3A1
  hgvsc: ENST00000284110.1:c.546C>T
  hgvsp: ENST00000284110.1:c.546C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5196
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3810
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2078
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly182Gly
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2596
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7540
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

17-13503901-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13503901
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 13503901
    reference: chr 17
allele count: 2
allele frequency: 2.581844469689146e-5
allele num: 77464
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000153976
  ensembl protein: ENSP00000284110
  ensembl transcript: ENST00000284110
  gene symbol: HS3ST3A1
  hgvsc: ENST00000284110.1:c.546C>A
  hgvsp: ENST00000284110.1:c.546C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5196
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21151
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3746
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5
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hgvs: p.Gly182Gly
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 2.319647413593134e-5
  allele num: 43110
  num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 2.002402883460152e-4
  allele num: 4994
  num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

17-13503902-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13503902
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 13503902
    reference: chr 17
allele count: 1
allele frequency: 1.288294555667208e-5
allele num: 77622
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153976
  ensembl protein: ENSP00000284110
  ensembl transcript: ENST00000284110
  gene symbol: HS3ST3A1
  hgvsc: ENST00000284110.1:c.545G>A
  hgvsp: ENSP00000284110.1:p.Gly182Asp
  variant of: http://identifiers.org/hgnc/5196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1473
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hgvs: p.Gly182Asp
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 2.315457997591924e-5
  allele num: 43188
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6026
  num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

17-13503909-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13503909
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 13503909
    reference: chr 17
allele count: 3
allele frequency: 4.010909674314134e-5
allele num: 74796
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153976
  ensembl protein: ENSP00000284110
  ensembl transcript: ENST00000284110
  gene symbol: HS3ST3A1
  hgvsc: ENST00000284110.1:c.538G>A
  hgvsp: ENSP00000284110.1:p.Ala180Thr
  variant of: http://identifiers.org/hgnc/5196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9262
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
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genotype depth: GenotypeDepth
  all individuals: 3868
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2535
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19388
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2319
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3818
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala180Thr
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 41536
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5754
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

17-13503911-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13503911
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 13503911
    reference: chr 17
allele count: 1
allele frequency: 1.32890365448505e-5
allele num: 75250
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153976
  ensembl protein: ENSP00000284110
  ensembl transcript: ENST00000284110
  gene symbol: HS3ST3A1
  hgvsc: ENST00000284110.1:c.536G>A
  hgvsp: ENSP00000284110.1:p.Arg179His
  variant of: http://identifiers.org/hgnc/5196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9293
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17792
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3930
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 1703
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 311
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 629
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 21822
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
  all individuals: 12
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg179His
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 41766
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4836
  num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

http://identifiers.org/exac.variant/17-13503915-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13503915
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 13503915
    reference: chr 17
allele count: 1
allele frequency: 1.348472181018906e-5
allele num: 74158
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153976
  ensembl protein: ENSP00000284110
  ensembl transcript: ENST00000284110
  gene symbol: HS3ST3A1
  hgvsc: ENST00000284110.1:c.532G>T
  hgvsp: ENSP00000284110.1:p.Val178Leu
  variant of: http://identifiers.org/hgnc/5196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9861
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4031
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18638
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1772
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 686
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genotype quality: GenotypeQuality
  all individuals: 3964
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2691
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
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genotype quality: GenotypeQuality
  all individuals: 1261
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genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
  all individuals: 124
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 216
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genotype quality: GenotypeQuality
  all individuals: 10
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  variant carriers: 0
hgvs: p.Val178Leu
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 8.050233456770246e-5
  allele num: 12422
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 492
  num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

17-13503916-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13503916
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 13503916
    reference: chr 17
allele count: 6
allele frequency: 8.086253369272237e-5
allele num: 74200
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153976
  ensembl protein: ENSP00000284110
  ensembl transcript: ENST00000284110
  gene symbol: HS3ST3A1
  hgvsc: ENST00000284110.1:c.531C>G
  hgvsp: ENSP00000284110.1:p.Asp177Glu
  variant of: http://identifiers.org/hgnc/5196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9871
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17693
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  variant carriers: 3
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4423
  bin: 1.75e1
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2658
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp177Glu
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4762
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 41152
  num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

17-13503916-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13503916
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 13503916
    reference: chr 17
allele count: 9
allele frequency: 1.212938005390836e-4
allele num: 74200
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000153976
  ensembl protein: ENSP00000284110
  ensembl transcript: ENST00000284110
  gene symbol: HS3ST3A1
  hgvsc: ENST00000284110.1:c.531C>T
  hgvsp: ENST00000284110.1:c.531C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5196
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9871
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22698
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp177Asp
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4762
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2474
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

17-13503917-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13503917
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 13503917
    reference: chr 17
allele count: 1
allele frequency: 1.349746247705431e-5
allele num: 74088
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153976
  ensembl protein: ENSP00000284110
  ensembl transcript: ENST00000284110
  gene symbol: HS3ST3A1
  hgvsc: ENST00000284110.1:c.530A>T
  hgvsp: ENSP00000284110.1:p.Asp177Val
  variant of: http://identifiers.org/hgnc/5196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4399
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17588
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9985
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4867
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19401
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2468
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1726
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3949
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22825
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2676
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp177Val
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 490
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 2.434630179675707e-5
  allele num: 41074
  num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD

17-13503919-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13503919
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 13503919
    reference: chr 17
allele count: 1
allele frequency: 1.364256480218281e-5
allele num: 73300
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000153976
  ensembl protein: ENSP00000284110
  ensembl transcript: ENST00000284110
  gene symbol: HS3ST3A1
  hgvsc: ENST00000284110.1:c.528C>G
  hgvsp: ENST00000284110.1:c.528C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5196
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4460
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4046
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18507
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2676
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23120
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4047
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1727
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2529
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18951
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro176Pro
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2424
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4678
  num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD

17-13503920-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13503920
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 13503920
    reference: chr 17
allele count: 3
allele frequency: 4.113759153114116e-5
allele num: 72926
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153976
  ensembl protein: ENSP00000284110
  ensembl transcript: ENST00000284110
  gene symbol: HS3ST3A1
  hgvsc: ENST00000284110.1:c.527C>A
  hgvsp: ENSP00000284110.1:p.Pro176His
  variant of: http://identifiers.org/hgnc/5196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4098
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18749
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10408
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2611
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2723
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18123
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4072
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
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genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1160
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23390
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 28
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro176His
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2420
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7042
  num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

17-13503924-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13503924
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 13503924
    reference: chr 17
allele count: 1
allele frequency: 1.395829262164652e-5
allele num: 71642
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153976
  ensembl protein: ENSP00000284110
  ensembl transcript: ENST00000284110
  gene symbol: HS3ST3A1
  hgvsc: ENST00000284110.1:c.523C>T
  hgvsp: ENSP00000284110.1:p.His175Tyr
  variant of: http://identifiers.org/hgnc/5196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4585
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10922
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4176
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 980
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2801
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 16982
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1820
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
hgvs: p.His175Tyr
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 472
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4620
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

17-13503927-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13503927
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 13503927
    reference: chr 17
allele count: 1
allele frequency: 1.414267126774905e-5
allele num: 70708
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153976
  ensembl protein: ENSP00000284110
  ensembl transcript: ENST00000284110
  gene symbol: HS3ST3A1
  hgvsc: ENST00000284110.1:c.520G>C
  hgvsp: ENSP00000284110.1:p.Val174Leu
  variant of: http://identifiers.org/hgnc/5196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19652
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4261
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16586
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2696
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 956
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val174Leu
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5488
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2298
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

17-13503930-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13503930
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 13503930
    reference: chr 17
allele count: 1
allele frequency: 1.435008466549953e-5
allele num: 69686
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153976
  ensembl protein: ENSP00000284110
  ensembl transcript: ENST00000284110
  gene symbol: HS3ST3A1
  hgvsc: ENST00000284110.1:c.517C>A
  hgvsp: ENSP00000284110.1:p.Arg173Ser
  variant of: http://identifiers.org/hgnc/5196
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4277
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4400
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11481
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 452
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 176
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genotype quality: GenotypeQuality
  all individuals: 897
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 299
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 25
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  variant carriers: 0
hgvs: p.Arg173Ser
num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 2.219263204616067e-4
  allele num: 4506
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 466
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP

17-13503934-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13503934
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 13503934
    reference: chr 17
allele count: 1
allele frequency: 1.459470504101112e-5
allele num: 68518
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153976
  ensembl protein: ENSP00000284110
  ensembl transcript: ENST00000284110
  gene symbol: HS3ST3A1
  hgvsc: ENST00000284110.1:c.513C>G
  hgvsp: ENSP00000284110.1:p.Phe171Leu
  variant of: http://identifiers.org/hgnc/5196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4428
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4392
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 907
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  variant carriers: 0
hgvs: p.Phe171Leu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6570
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 2.660565104028095e-5
  allele num: 37586
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum

17-13503939-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13503939
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 13503939
    reference: chr 17
allele count: 1
allele frequency: 1.529285823520416e-5
allele num: 65390
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153976
  ensembl protein: ENSP00000284110
  ensembl transcript: ENST00000284110
  gene symbol: HS3ST3A1
  hgvsc: ENST00000284110.1:c.508G>C
  hgvsp: ENSP00000284110.1:p.Glu170Gln
  variant of: http://identifiers.org/hgnc/5196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4750
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11812
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 831
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genotype quality: GenotypeQuality
  all individuals: 86
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hgvs: p.Glu170Gln
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11698
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 442
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

17-13503946-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13503946
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 13503946
    reference: chr 17
allele count: 2
allele frequency: 3.159657493127745e-5
allele num: 63298
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000153976
  ensembl protein: ENSP00000284110
  ensembl transcript: ENST00000284110
  gene symbol: HS3ST3A1
  hgvsc: ENST00000284110.1:c.501G>A
  hgvsp: ENST00000284110.1:c.501G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5196
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22521
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11508
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5024
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2923
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2907
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1814
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11607
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27345
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala167Ala
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 5.806863712908658e-5
  allele num: 34442
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1918
  num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

17-13503947-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13503947
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 13503947
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 62928
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153976
  ensembl protein: ENSP00000284110
  ensembl transcript: ENST00000284110
  gene symbol: HS3ST3A1
  hgvsc: ENST00000284110.1:c.500C>T
  hgvsp: ENSP00000284110.1:p.Ala167Val
  variant of: http://identifiers.org/hgnc/5196
canonical: true
consequence: missense
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11505
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4940
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22683
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4956
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2875
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27569
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1736
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4982
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11670
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1862
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2908
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala167Val
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11498
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4880
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

17-13503947-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13503947
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 13503948
    reference: chr 17
allele count: 1
allele frequency: 1.589117721840834e-5
allele num: 62928
alternate allele: GC
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000153976
  ensembl protein: ENSP00000284110
  ensembl transcript: ENST00000284110
  gene symbol: HS3ST3A1
  hgvsc: ENST00000284110.1:c.499dupG
  hgvsp: ENSP00000284110.1:p.Ala167GlyfsTer208
  variant of: http://identifiers.org/hgnc/5196
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11505
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4956
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4940
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22683
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1736
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1862
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27569
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4982
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2875
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11670
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2908
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala167GlyfsTer208
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 434
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 1.676164934629568e-4
  allele num: 5966
  num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD

17-13503950-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13503950
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 13503950
    reference: chr 17
allele count: 1
allele frequency: 1.615195761726321e-5
allele num: 61912
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153976
  ensembl protein: ENSP00000284110
  ensembl transcript: ENST00000284110
  gene symbol: HS3ST3A1
  hgvsc: ENST00000284110.1:c.497G>A
  hgvsp: ENSP00000284110.1:p.Arg166Gln
  variant of: http://identifiers.org/hgnc/5196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4765
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5040
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23070
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28032
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1699
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5113
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2843
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1813
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11492
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 776
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2837
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg166Gln
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3992
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 424
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

17-13503953-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13503953
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 13503953
    reference: chr 17
allele count: 1
allele frequency: 1.626016260162601e-5
allele num: 61500
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153976
  ensembl protein: ENSP00000284110
  ensembl transcript: ENST00000284110
  gene symbol: HS3ST3A1
  hgvsc: ENST00000284110.1:c.494C>A
  hgvsp: ENSP00000284110.1:p.Thr165Lys
  variant of: http://identifiers.org/hgnc/5196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5081
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23496
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12189
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2728
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4368
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
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genotype quality: GenotypeQuality
  all individuals: 786
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28782
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 5116
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 982
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11963
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2737
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1700
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr165Lys
num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 2.527805864509606e-4
  allele num: 3956
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4770
  num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD

17-13503961-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13503961
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 13503961
    reference: chr 17
allele count: 2
allele frequency: 3.421259707824421e-5
allele num: 58458
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000153976
  ensembl protein: ENSP00000284110
  ensembl transcript: ENST00000284110
  gene symbol: HS3ST3A1
  hgvsc: ENST00000284110.1:c.486G>A
  hgvsp: ENST00000284110.1:c.486G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5196
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11617
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5400
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24654
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11942
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12293
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5487
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30584
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2388
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys162Lys
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11134
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 2
  allele frequency: 1.162790697674419e-3
  allele num: 1720
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

17-13503972-CGAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13503972
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 13503969
    reference: chr 17
allele count: 1
allele frequency: 1.805314846909301e-5
allele num: 55392
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000153976
  ensembl protein: ENSP00000284110
  ensembl transcript: ENST00000284110
  gene symbol: HS3ST3A1
  hgvsc: ENST00000284110.1:c.472_474delATC
  hgvsp: ENSP00000284110.1:p.Ile158del
  variant of: http://identifiers.org/hgnc/5196
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25615
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5876
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1929
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11886
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2234
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6081
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32412
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile158del
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3510
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 2.355157795572303e-4
  allele num: 4246
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: CGAT
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP

17-13503975-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13503975
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 13503975
    reference: chr 17
allele count: 1
allele frequency: 1.828287260494369e-5
allele num: 54696
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153976
  ensembl protein: ENSP00000284110
  ensembl transcript: ENST00000284110
  gene symbol: HS3ST3A1
  hgvsc: ENST00000284110.1:c.472A>G
  hgvsp: ENSP00000284110.1:p.Ile158Val
  variant of: http://identifiers.org/hgnc/5196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25934
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12418
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11622
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32984
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6275
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1908
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile158Val
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 3.425596053713346e-5
  allele num: 29192
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1598
  num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

17-13503978-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13503978
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 13503978
    reference: chr 17
allele count: 1
allele frequency: 1.869787966044651e-5
allele num: 53482
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153976
  ensembl protein: ENSP00000284110
  ensembl transcript: ENST00000284110
  gene symbol: HS3ST3A1
  hgvsc: ENST00000284110.1:c.469A>G
  hgvsp: ENSP00000284110.1:p.Ile157Val
  variant of: http://identifiers.org/hgnc/5196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12754
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6450
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26073
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2025
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 33093
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2235
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 296
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 878
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1921
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 318
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 629
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6628
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile157Val
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 3.514691410094194e-5
  allele num: 28452
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1552
  num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/17-13503992-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13503992
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 13503992
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 46002
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153976
  ensembl protein: ENSP00000284110
  ensembl transcript: ENST00000284110
  gene symbol: HS3ST3A1
  hgvsc: ENST00000284110.1:c.455T>G
  hgvsp: ENSP00000284110.1:p.Leu152Arg
  variant of: http://identifiers.org/hgnc/5196
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 26994
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8728
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12488
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33169
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8028
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1947
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8854
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu152Arg
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1148
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 23890
  num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

17-13503993-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13503993
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 13503993
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 44690
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153976
  ensembl protein: ENSP00000284110
  ensembl transcript: ENST00000284110
  gene symbol: HS3ST3A1
  hgvsc: ENST00000284110.1:c.454C>G
  hgvsp: ENSP00000284110.1:p.Leu152Val
  variant of: http://identifiers.org/hgnc/5196
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 12394
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27025
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6687
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1939
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32453
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2236
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9239
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7303
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu152Val
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 314
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 23114
  num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

19-49129393-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49129393
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49129393
    reference: chr 19
allele count: 1347
allele frequency: 1.211439877686842e-2
allele num: 111190
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000598574
  gene symbol: SPHK2
  hgvsc: ENST00000598574.1:n.1108C>T
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471111
  ensembl transcript: ENST00000597434
  gene symbol: SPHK2
  hgvsc: ENST00000597434.1:c.177C>T
  hgvsp: ENST00000597434.1:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000245222
  ensembl transcript: ENST00000245222
  gene symbol: SPHK2
  hgvsc: ENST00000245222.4:c.285C>T
  hgvsp: ENST00000245222.4:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000410044
  ensembl transcript: ENST00000426514
  gene symbol: SPHK2
  hgvsc: ENST00000426514.2:c.40-1556C>T
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471180
  ensembl transcript: ENST00000601712
  gene symbol: SPHK2
  hgvsc: ENST00000601712.1:c.177C>T
  hgvsp: ENST00000601712.1:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000470679
  ensembl transcript: ENST00000593308
  gene symbol: SPHK2
  hgvsc: ENST00000593308.1:c.177C>T
  hgvsp: ENST00000593308.1:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469448
  ensembl transcript: ENST00000601704
  gene symbol: SPHK2
  hgvsc: ENST00000601704.1:c.177C>T
  hgvsp: ENST00000601704.1:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000341091
  ensembl transcript: ENST00000340932
  gene symbol: SPHK2
  hgvsc: ENST00000340932.3:c.177C>T
  hgvsp: ENST00000340932.3:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000470092
  ensembl transcript: ENST00000600537
  gene symbol: SPHK2
  hgvsc: ENST00000600537.1:c.108C>T
  hgvsp: ENST00000600537.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000599033
  gene symbol: SPHK2
  hgvsc: ENST00000599033.1:n.453C>T
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469158
  ensembl transcript: ENST00000598088
  gene symbol: SPHK2
  hgvsc: ENST00000598088.1:c.285C>T
  hgvsp: ENST00000598088.1:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000472983
  ensembl transcript: ENST00000599029
  gene symbol: SPHK2
  hgvsc: ENST00000599029.1:c.177C>T
  hgvsp: ENST00000599029.1:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000413369
  ensembl transcript: ENST00000443164
  gene symbol: SPHK2
  hgvsc: ENST00000443164.1:c.471C>T
  hgvsp: ENST00000443164.1:c.471C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471205
  ensembl transcript: ENST00000599748
  gene symbol: SPHK2
  hgvsc: ENST00000599748.1:c.177C>T
  hgvsp: ENST00000599748.1:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 14502
  bin: 2.75e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 1.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 150
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 181
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 3.75e1
  variant carriers: 151
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 3373
  bin: 7.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
hgvs: p.Ala95Ala
num of homozygotes: 41
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

19-49129419-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49129419
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49129419
    reference: chr 19
allele count: 8
allele frequency: 7.439230783536983e-5
allele num: 107538
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000410044
  ensembl transcript: ENST00000426514
  gene symbol: SPHK2
  hgvsc: ENST00000426514.2:c.40-1530G>A
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000413369
  ensembl transcript: ENST00000443164
  gene symbol: SPHK2
  hgvsc: ENST00000443164.1:c.497G>A
  hgvsp: ENSP00000413369.1:p.Arg166Gln
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000472983
  ensembl transcript: ENST00000599029
  gene symbol: SPHK2
  hgvsc: ENST00000599029.1:c.203G>A
  hgvsp: ENSP00000472983.1:p.Arg68Gln
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000245222
  ensembl transcript: ENST00000245222
  gene symbol: SPHK2
  hgvsc: ENST00000245222.4:c.311G>A
  hgvsp: ENSP00000245222.3:p.Arg104Gln
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469158
  ensembl transcript: ENST00000598088
  gene symbol: SPHK2
  hgvsc: ENST00000598088.1:c.311G>A
  hgvsp: ENSP00000469158.1:p.Arg104Gln
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000470092
  ensembl transcript: ENST00000600537
  gene symbol: SPHK2
  hgvsc: ENST00000600537.1:c.134G>A
  hgvsp: ENSP00000470092.1:p.Arg45Gln
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000598574
  gene symbol: SPHK2
  hgvsc: ENST00000598574.1:n.1134G>A
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000470679
  ensembl transcript: ENST00000593308
  gene symbol: SPHK2
  hgvsc: ENST00000593308.1:c.203G>A
  hgvsp: ENSP00000470679.1:p.Arg68Gln
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000599033
  gene symbol: SPHK2
  hgvsc: ENST00000599033.1:n.479G>A
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000341091
  ensembl transcript: ENST00000340932
  gene symbol: SPHK2
  hgvsc: ENST00000340932.3:c.203G>A
  hgvsp: ENSP00000341091.3:p.Arg68Gln
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471205
  ensembl transcript: ENST00000599748
  gene symbol: SPHK2
  hgvsc: ENST00000599748.1:c.203G>A
  hgvsp: ENSP00000471205.1:p.Arg68Gln
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469448
  ensembl transcript: ENST00000601704
  gene symbol: SPHK2
  hgvsc: ENST00000601704.1:c.203G>A
  hgvsp: ENSP00000469448.1:p.Arg68Gln
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471111
  ensembl transcript: ENST00000597434
  gene symbol: SPHK2
  hgvsc: ENST00000597434.1:c.203G>A
  hgvsp: ENSP00000471111.1:p.Arg68Gln
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471180
  ensembl transcript: ENST00000601712
  gene symbol: SPHK2
  hgvsc: ENST00000601712.1:c.203G>A
  hgvsp: ENSP00000471180.1:p.Arg68Gln
  variant of: http://identifiers.org/hgnc/18859
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4477
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg104Gln
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

19-49129424-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49129424
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49129424
    reference: chr 19
allele count: 22
allele frequency: 2.024440518256773e-4
allele num: 108672
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000470092
  ensembl transcript: ENST00000600537
  gene symbol: SPHK2
  hgvsc: ENST00000600537.1:c.139C>T
  hgvsp: ENSP00000470092.1:p.Arg47Cys
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471111
  ensembl transcript: ENST00000597434
  gene symbol: SPHK2
  hgvsc: ENST00000597434.1:c.208C>T
  hgvsp: ENSP00000471111.1:p.Arg70Cys
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000341091
  ensembl transcript: ENST00000340932
  gene symbol: SPHK2
  hgvsc: ENST00000340932.3:c.208C>T
  hgvsp: ENSP00000341091.3:p.Arg70Cys
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000410044
  ensembl transcript: ENST00000426514
  gene symbol: SPHK2
  hgvsc: ENST00000426514.2:c.40-1525C>T
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000470679
  ensembl transcript: ENST00000593308
  gene symbol: SPHK2
  hgvsc: ENST00000593308.1:c.208C>T
  hgvsp: ENSP00000470679.1:p.Arg70Cys
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469158
  ensembl transcript: ENST00000598088
  gene symbol: SPHK2
  hgvsc: ENST00000598088.1:c.316C>T
  hgvsp: ENSP00000469158.1:p.Arg106Cys
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000245222
  ensembl transcript: ENST00000245222
  gene symbol: SPHK2
  hgvsc: ENST00000245222.4:c.316C>T
  hgvsp: ENSP00000245222.3:p.Arg106Cys
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471205
  ensembl transcript: ENST00000599748
  gene symbol: SPHK2
  hgvsc: ENST00000599748.1:c.208C>T
  hgvsp: ENSP00000471205.1:p.Arg70Cys
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000472983
  ensembl transcript: ENST00000599029
  gene symbol: SPHK2
  hgvsc: ENST00000599029.1:c.208C>T
  hgvsp: ENSP00000472983.1:p.Arg70Cys
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471180
  ensembl transcript: ENST00000601712
  gene symbol: SPHK2
  hgvsc: ENST00000601712.1:c.208C>T
  hgvsp: ENSP00000471180.1:p.Arg70Cys
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469448
  ensembl transcript: ENST00000601704
  gene symbol: SPHK2
  hgvsc: ENST00000601704.1:c.208C>T
  hgvsp: ENSP00000469448.1:p.Arg70Cys
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000599033
  gene symbol: SPHK2
  hgvsc: ENST00000599033.1:n.484C>T
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000598574
  gene symbol: SPHK2
  hgvsc: ENST00000598574.1:n.1139C>T
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000413369
  ensembl transcript: ENST00000443164
  gene symbol: SPHK2
  hgvsc: ENST00000443164.1:c.502C>T
  hgvsp: ENSP00000413369.1:p.Arg168Cys
  variant of: http://identifiers.org/hgnc/18859
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4074
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15094
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29615
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 3.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
hgvs: p.Arg106Cys
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

19-49129428-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49129428
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49129428
    reference: chr 19
allele count: 2
allele frequency: 1.841824142630862e-5
allele num: 108588
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000410044
  ensembl transcript: ENST00000426514
  gene symbol: SPHK2
  hgvsc: ENST00000426514.2:c.40-1521G>A
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000413369
  ensembl transcript: ENST00000443164
  gene symbol: SPHK2
  hgvsc: ENST00000443164.1:c.506G>A
  hgvsp: ENSP00000413369.1:p.Ser169Asn
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000470679
  ensembl transcript: ENST00000593308
  gene symbol: SPHK2
  hgvsc: ENST00000593308.1:c.212G>A
  hgvsp: ENSP00000470679.1:p.Ser71Asn
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000598574
  gene symbol: SPHK2
  hgvsc: ENST00000598574.1:n.1143G>A
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471111
  ensembl transcript: ENST00000597434
  gene symbol: SPHK2
  hgvsc: ENST00000597434.1:c.212G>A
  hgvsp: ENSP00000471111.1:p.Ser71Asn
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000599033
  gene symbol: SPHK2
  hgvsc: ENST00000599033.1:n.488G>A
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471205
  ensembl transcript: ENST00000599748
  gene symbol: SPHK2
  hgvsc: ENST00000599748.1:c.212G>A
  hgvsp: ENSP00000471205.1:p.Ser71Asn
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469448
  ensembl transcript: ENST00000601704
  gene symbol: SPHK2
  hgvsc: ENST00000601704.1:c.212G>A
  hgvsp: ENSP00000469448.1:p.Ser71Asn
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000341091
  ensembl transcript: ENST00000340932
  gene symbol: SPHK2
  hgvsc: ENST00000340932.3:c.212G>A
  hgvsp: ENSP00000341091.3:p.Ser71Asn
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000245222
  ensembl transcript: ENST00000245222
  gene symbol: SPHK2
  hgvsc: ENST00000245222.4:c.320G>A
  hgvsp: ENSP00000245222.3:p.Ser107Asn
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471180
  ensembl transcript: ENST00000601712
  gene symbol: SPHK2
  hgvsc: ENST00000601712.1:c.212G>A
  hgvsp: ENSP00000471180.1:p.Ser71Asn
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000470092
  ensembl transcript: ENST00000600537
  gene symbol: SPHK2
  hgvsc: ENST00000600537.1:c.143G>A
  hgvsp: ENSP00000470092.1:p.Ser48Asn
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469158
  ensembl transcript: ENST00000598088
  gene symbol: SPHK2
  hgvsc: ENST00000598088.1:c.320G>A
  hgvsp: ENSP00000469158.1:p.Ser107Asn
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000472983
  ensembl transcript: ENST00000599029
  gene symbol: SPHK2
  hgvsc: ENST00000599029.1:c.212G>A
  hgvsp: ENSP00000472983.1:p.Ser71Asn
  variant of: http://identifiers.org/hgnc/18859
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser107Asn
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

19-49129430-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49129430
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49129430
    reference: chr 19
allele count: 2
allele frequency: 1.844610049435549e-5
allele num: 108424
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000413369
  ensembl transcript: ENST00000443164
  gene symbol: SPHK2
  hgvsc: ENST00000443164.1:c.508C>T
  hgvsp: ENSP00000413369.1:p.Pro170Ser
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000598574
  gene symbol: SPHK2
  hgvsc: ENST00000598574.1:n.1145C>T
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000245222
  ensembl transcript: ENST00000245222
  gene symbol: SPHK2
  hgvsc: ENST00000245222.4:c.322C>T
  hgvsp: ENSP00000245222.3:p.Pro108Ser
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000472983
  ensembl transcript: ENST00000599029
  gene symbol: SPHK2
  hgvsc: ENST00000599029.1:c.214C>T
  hgvsp: ENSP00000472983.1:p.Pro72Ser
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471205
  ensembl transcript: ENST00000599748
  gene symbol: SPHK2
  hgvsc: ENST00000599748.1:c.214C>T
  hgvsp: ENSP00000471205.1:p.Pro72Ser
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469448
  ensembl transcript: ENST00000601704
  gene symbol: SPHK2
  hgvsc: ENST00000601704.1:c.214C>T
  hgvsp: ENSP00000469448.1:p.Pro72Ser
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000410044
  ensembl transcript: ENST00000426514
  gene symbol: SPHK2
  hgvsc: ENST00000426514.2:c.40-1519C>T
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000341091
  ensembl transcript: ENST00000340932
  gene symbol: SPHK2
  hgvsc: ENST00000340932.3:c.214C>T
  hgvsp: ENSP00000341091.3:p.Pro72Ser
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471111
  ensembl transcript: ENST00000597434
  gene symbol: SPHK2
  hgvsc: ENST00000597434.1:c.214C>T
  hgvsp: ENSP00000471111.1:p.Pro72Ser
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000470679
  ensembl transcript: ENST00000593308
  gene symbol: SPHK2
  hgvsc: ENST00000593308.1:c.214C>T
  hgvsp: ENSP00000470679.1:p.Pro72Ser
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000470092
  ensembl transcript: ENST00000600537
  gene symbol: SPHK2
  hgvsc: ENST00000600537.1:c.145C>T
  hgvsp: ENSP00000470092.1:p.Pro49Ser
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000599033
  gene symbol: SPHK2
  hgvsc: ENST00000599033.1:n.490C>T
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471180
  ensembl transcript: ENST00000601712
  gene symbol: SPHK2
  hgvsc: ENST00000601712.1:c.214C>T
  hgvsp: ENSP00000471180.1:p.Pro72Ser
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469158
  ensembl transcript: ENST00000598088
  gene symbol: SPHK2
  hgvsc: ENST00000598088.1:c.322C>T
  hgvsp: ENSP00000469158.1:p.Pro108Ser
  variant of: http://identifiers.org/hgnc/18859
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro108Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

19-49129431-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49129431
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49129431
    reference: chr 19
allele count: 1
allele frequency: 9.220158955540394e-6
allele num: 108458
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469448
  ensembl transcript: ENST00000601704
  gene symbol: SPHK2
  hgvsc: ENST00000601704.1:c.215C>T
  hgvsp: ENSP00000469448.1:p.Pro72Leu
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471180
  ensembl transcript: ENST00000601712
  gene symbol: SPHK2
  hgvsc: ENST00000601712.1:c.215C>T
  hgvsp: ENSP00000471180.1:p.Pro72Leu
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471111
  ensembl transcript: ENST00000597434
  gene symbol: SPHK2
  hgvsc: ENST00000597434.1:c.215C>T
  hgvsp: ENSP00000471111.1:p.Pro72Leu
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000413369
  ensembl transcript: ENST00000443164
  gene symbol: SPHK2
  hgvsc: ENST00000443164.1:c.509C>T
  hgvsp: ENSP00000413369.1:p.Pro170Leu
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000245222
  ensembl transcript: ENST00000245222
  gene symbol: SPHK2
  hgvsc: ENST00000245222.4:c.323C>T
  hgvsp: ENSP00000245222.3:p.Pro108Leu
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000470679
  ensembl transcript: ENST00000593308
  gene symbol: SPHK2
  hgvsc: ENST00000593308.1:c.215C>T
  hgvsp: ENSP00000470679.1:p.Pro72Leu
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000341091
  ensembl transcript: ENST00000340932
  gene symbol: SPHK2
  hgvsc: ENST00000340932.3:c.215C>T
  hgvsp: ENSP00000341091.3:p.Pro72Leu
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000472983
  ensembl transcript: ENST00000599029
  gene symbol: SPHK2
  hgvsc: ENST00000599029.1:c.215C>T
  hgvsp: ENSP00000472983.1:p.Pro72Leu
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471205
  ensembl transcript: ENST00000599748
  gene symbol: SPHK2
  hgvsc: ENST00000599748.1:c.215C>T
  hgvsp: ENSP00000471205.1:p.Pro72Leu
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469158
  ensembl transcript: ENST00000598088
  gene symbol: SPHK2
  hgvsc: ENST00000598088.1:c.323C>T
  hgvsp: ENSP00000469158.1:p.Pro108Leu
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000470092
  ensembl transcript: ENST00000600537
  gene symbol: SPHK2
  hgvsc: ENST00000600537.1:c.146C>T
  hgvsp: ENSP00000470092.1:p.Pro49Leu
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000599033
  gene symbol: SPHK2
  hgvsc: ENST00000599033.1:n.491C>T
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000598574
  gene symbol: SPHK2
  hgvsc: ENST00000598574.1:n.1146C>T
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000410044
  ensembl transcript: ENST00000426514
  gene symbol: SPHK2
  hgvsc: ENST00000426514.2:c.40-1518C>T
  variant of: http://identifiers.org/hgnc/18859
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro108Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/19-49129443-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49129443
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49129443
    reference: chr 19
allele count: 1
allele frequency: 9.330273003788091e-6
allele num: 107178
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000472983
  ensembl transcript: ENST00000599029
  gene symbol: SPHK2
  hgvsc: ENST00000599029.1:c.227C>A
  hgvsp: ENSP00000472983.1:p.Ala76Glu
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469158
  ensembl transcript: ENST00000598088
  gene symbol: SPHK2
  hgvsc: ENST00000598088.1:c.335C>A
  hgvsp: ENSP00000469158.1:p.Ala112Glu
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469448
  ensembl transcript: ENST00000601704
  gene symbol: SPHK2
  hgvsc: ENST00000601704.1:c.227C>A
  hgvsp: ENSP00000469448.1:p.Ala76Glu
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000599033
  gene symbol: SPHK2
  hgvsc: ENST00000599033.1:n.503C>A
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000598574
  gene symbol: SPHK2
  hgvsc: ENST00000598574.1:n.1158C>A
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471180
  ensembl transcript: ENST00000601712
  gene symbol: SPHK2
  hgvsc: ENST00000601712.1:c.227C>A
  hgvsp: ENSP00000471180.1:p.Ala76Glu
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000245222
  ensembl transcript: ENST00000245222
  gene symbol: SPHK2
  hgvsc: ENST00000245222.4:c.335C>A
  hgvsp: ENSP00000245222.3:p.Ala112Glu
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471205
  ensembl transcript: ENST00000599748
  gene symbol: SPHK2
  hgvsc: ENST00000599748.1:c.227C>A
  hgvsp: ENSP00000471205.1:p.Ala76Glu
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000410044
  ensembl transcript: ENST00000426514
  gene symbol: SPHK2
  hgvsc: ENST00000426514.2:c.40-1506C>A
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000341091
  ensembl transcript: ENST00000340932
  gene symbol: SPHK2
  hgvsc: ENST00000340932.3:c.227C>A
  hgvsp: ENSP00000341091.3:p.Ala76Glu
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471111
  ensembl transcript: ENST00000597434
  gene symbol: SPHK2
  hgvsc: ENST00000597434.1:c.227C>A
  hgvsp: ENSP00000471111.1:p.Ala76Glu
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000413369
  ensembl transcript: ENST00000443164
  gene symbol: SPHK2
  hgvsc: ENST00000443164.1:c.521C>A
  hgvsp: ENSP00000413369.1:p.Ala174Glu
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000470092
  ensembl transcript: ENST00000600537
  gene symbol: SPHK2
  hgvsc: ENST00000600537.1:c.158C>A
  hgvsp: ENSP00000470092.1:p.Ala53Glu
  variant of: http://identifiers.org/hgnc/18859
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3351
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28869
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4778
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala112Glu
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

19-49129443-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49129443
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49129443
    reference: chr 19
allele count: 6
allele frequency: 5.598163802272855e-5
allele num: 107178
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471205
  ensembl transcript: ENST00000599748
  gene symbol: SPHK2
  hgvsc: ENST00000599748.1:c.227C>T
  hgvsp: ENSP00000471205.1:p.Ala76Val
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471111
  ensembl transcript: ENST00000597434
  gene symbol: SPHK2
  hgvsc: ENST00000597434.1:c.227C>T
  hgvsp: ENSP00000471111.1:p.Ala76Val
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469158
  ensembl transcript: ENST00000598088
  gene symbol: SPHK2
  hgvsc: ENST00000598088.1:c.335C>T
  hgvsp: ENSP00000469158.1:p.Ala112Val
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000470092
  ensembl transcript: ENST00000600537
  gene symbol: SPHK2
  hgvsc: ENST00000600537.1:c.158C>T
  hgvsp: ENSP00000470092.1:p.Ala53Val
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000245222
  ensembl transcript: ENST00000245222
  gene symbol: SPHK2
  hgvsc: ENST00000245222.4:c.335C>T
  hgvsp: ENSP00000245222.3:p.Ala112Val
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471180
  ensembl transcript: ENST00000601712
  gene symbol: SPHK2
  hgvsc: ENST00000601712.1:c.227C>T
  hgvsp: ENSP00000471180.1:p.Ala76Val
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000413369
  ensembl transcript: ENST00000443164
  gene symbol: SPHK2
  hgvsc: ENST00000443164.1:c.521C>T
  hgvsp: ENSP00000413369.1:p.Ala174Val
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000341091
  ensembl transcript: ENST00000340932
  gene symbol: SPHK2
  hgvsc: ENST00000340932.3:c.227C>T
  hgvsp: ENSP00000341091.3:p.Ala76Val
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469448
  ensembl transcript: ENST00000601704
  gene symbol: SPHK2
  hgvsc: ENST00000601704.1:c.227C>T
  hgvsp: ENSP00000469448.1:p.Ala76Val
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000599033
  gene symbol: SPHK2
  hgvsc: ENST00000599033.1:n.503C>T
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000410044
  ensembl transcript: ENST00000426514
  gene symbol: SPHK2
  hgvsc: ENST00000426514.2:c.40-1506C>T
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000598574
  gene symbol: SPHK2
  hgvsc: ENST00000598574.1:n.1158C>T
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000472983
  ensembl transcript: ENST00000599029
  gene symbol: SPHK2
  hgvsc: ENST00000599029.1:c.227C>T
  hgvsp: ENSP00000472983.1:p.Ala76Val
  variant of: http://identifiers.org/hgnc/18859
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4778
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3351
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28869
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14779
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala112Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP

19-49129444-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49129444
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49129444
    reference: chr 19
allele count: 4
allele frequency: 3.725921234025113e-5
allele num: 107356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471180
  ensembl transcript: ENST00000601712
  gene symbol: SPHK2
  hgvsc: ENST00000601712.1:c.228G>A
  hgvsp: ENST00000601712.1:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000413369
  ensembl transcript: ENST00000443164
  gene symbol: SPHK2
  hgvsc: ENST00000443164.1:c.522G>A
  hgvsp: ENST00000443164.1:c.522G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000245222
  ensembl transcript: ENST00000245222
  gene symbol: SPHK2
  hgvsc: ENST00000245222.4:c.336G>A
  hgvsp: ENST00000245222.4:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469448
  ensembl transcript: ENST00000601704
  gene symbol: SPHK2
  hgvsc: ENST00000601704.1:c.228G>A
  hgvsp: ENST00000601704.1:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000472983
  ensembl transcript: ENST00000599029
  gene symbol: SPHK2
  hgvsc: ENST00000599029.1:c.228G>A
  hgvsp: ENST00000599029.1:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000470092
  ensembl transcript: ENST00000600537
  gene symbol: SPHK2
  hgvsc: ENST00000600537.1:c.159G>A
  hgvsp: ENST00000600537.1:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000599033
  gene symbol: SPHK2
  hgvsc: ENST00000599033.1:n.504G>A
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471111
  ensembl transcript: ENST00000597434
  gene symbol: SPHK2
  hgvsc: ENST00000597434.1:c.228G>A
  hgvsp: ENST00000597434.1:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000410044
  ensembl transcript: ENST00000426514
  gene symbol: SPHK2
  hgvsc: ENST00000426514.2:c.40-1505G>A
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471205
  ensembl transcript: ENST00000599748
  gene symbol: SPHK2
  hgvsc: ENST00000599748.1:c.228G>A
  hgvsp: ENST00000599748.1:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000341091
  ensembl transcript: ENST00000340932
  gene symbol: SPHK2
  hgvsc: ENST00000340932.3:c.228G>A
  hgvsp: ENST00000340932.3:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000598574
  gene symbol: SPHK2
  hgvsc: ENST00000598574.1:n.1159G>A
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469158
  ensembl transcript: ENST00000598088
  gene symbol: SPHK2
  hgvsc: ENST00000598088.1:c.336G>A
  hgvsp: ENST00000598088.1:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4535
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4813
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala112Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum

19-49129444-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49129444
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49129444
    reference: chr 19
allele count: 1
allele frequency: 9.314803085062781e-6
allele num: 107356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000410044
  ensembl transcript: ENST00000426514
  gene symbol: SPHK2
  hgvsc: ENST00000426514.2:c.40-1505G>T
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000470092
  ensembl transcript: ENST00000600537
  gene symbol: SPHK2
  hgvsc: ENST00000600537.1:c.159G>T
  hgvsp: ENST00000600537.1:c.159G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000413369
  ensembl transcript: ENST00000443164
  gene symbol: SPHK2
  hgvsc: ENST00000443164.1:c.522G>T
  hgvsp: ENST00000443164.1:c.522G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471111
  ensembl transcript: ENST00000597434
  gene symbol: SPHK2
  hgvsc: ENST00000597434.1:c.228G>T
  hgvsp: ENST00000597434.1:c.228G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000599033
  gene symbol: SPHK2
  hgvsc: ENST00000599033.1:n.504G>T
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471180
  ensembl transcript: ENST00000601712
  gene symbol: SPHK2
  hgvsc: ENST00000601712.1:c.228G>T
  hgvsp: ENST00000601712.1:c.228G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469158
  ensembl transcript: ENST00000598088
  gene symbol: SPHK2
  hgvsc: ENST00000598088.1:c.336G>T
  hgvsp: ENST00000598088.1:c.336G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000341091
  ensembl transcript: ENST00000340932
  gene symbol: SPHK2
  hgvsc: ENST00000340932.3:c.228G>T
  hgvsp: ENST00000340932.3:c.228G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000245222
  ensembl transcript: ENST00000245222
  gene symbol: SPHK2
  hgvsc: ENST00000245222.4:c.336G>T
  hgvsp: ENST00000245222.4:c.336G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000472983
  ensembl transcript: ENST00000599029
  gene symbol: SPHK2
  hgvsc: ENST00000599029.1:c.228G>T
  hgvsp: ENST00000599029.1:c.228G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471205
  ensembl transcript: ENST00000599748
  gene symbol: SPHK2
  hgvsc: ENST00000599748.1:c.228G>T
  hgvsp: ENST00000599748.1:c.228G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469448
  ensembl transcript: ENST00000601704
  gene symbol: SPHK2
  hgvsc: ENST00000601704.1:c.228G>T
  hgvsp: ENST00000601704.1:c.228G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000598574
  gene symbol: SPHK2
  hgvsc: ENST00000598574.1:n.1159G>T
  variant of: http://identifiers.org/hgnc/18859
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4535
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4813
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala112Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ

19-49129472-C-CGGGGCCGGCGCG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49129472
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49129484
    reference: chr 19
allele count: 1
allele frequency: 1.025956704627065e-5
allele num: 97470
alternate allele: CGGGGCCGGCGCG
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471180
  ensembl transcript: ENST00000601712
  gene symbol: SPHK2
  hgvsp: ENSP00000471180.1:p.Gly87_Gly90dup
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469158
  ensembl transcript: ENST00000598088
  gene symbol: SPHK2
  hgvsp: ENSP00000469158.1:p.Gly123_Gly126dup
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000599033
  gene symbol: SPHK2
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000472983
  ensembl transcript: ENST00000599029
  gene symbol: SPHK2
  hgvsp: ENSP00000472983.1:p.Gly87_Gly90dup
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000470092
  ensembl transcript: ENST00000600537
  gene symbol: SPHK2
  hgvsp: ENSP00000470092.1:p.Gly64_Gly67dup
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000341091
  ensembl transcript: ENST00000340932
  gene symbol: SPHK2
  hgvsp: ENSP00000341091.3:p.Gly87_Gly90dup
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471205
  ensembl transcript: ENST00000599748
  gene symbol: SPHK2
  hgvsp: ENSP00000471205.1:p.Gly87_Gly90dup
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000410044
  ensembl transcript: ENST00000426514
  gene symbol: SPHK2
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000413369
  ensembl transcript: ENST00000443164
  gene symbol: SPHK2
  hgvsp: ENSP00000413369.1:p.Gly185_Gly188dup
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471111
  ensembl transcript: ENST00000597434
  gene symbol: SPHK2
  hgvsp: ENSP00000471111.1:p.Gly87_Gly90dup
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469448
  ensembl transcript: ENST00000601704
  gene symbol: SPHK2
  hgvsp: ENSP00000469448.1:p.Gly87_Gly90dup
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000245222
  ensembl transcript: ENST00000245222
  gene symbol: SPHK2
  hgvsp: ENSP00000245222.3:p.Gly123_Gly126dup
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000598574
  gene symbol: SPHK2
  variant of: http://identifiers.org/hgnc/18859
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5568
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly123_Gly126dup
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

19-49129472-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49129472
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49129472
    reference: chr 19
allele count: 1
allele frequency: 1.025956704627065e-5
allele num: 97470
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000472983
  ensembl transcript: ENST00000599029
  gene symbol: SPHK2
  hgvsc: ENST00000599029.1:c.256C>T
  hgvsp: ENSP00000472983.1:p.Arg86Trp
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000413369
  ensembl transcript: ENST00000443164
  gene symbol: SPHK2
  hgvsc: ENST00000443164.1:c.550C>T
  hgvsp: ENSP00000413369.1:p.Arg184Trp
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000598574
  gene symbol: SPHK2
  hgvsc: ENST00000598574.1:n.1187C>T
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469158
  ensembl transcript: ENST00000598088
  gene symbol: SPHK2
  hgvsc: ENST00000598088.1:c.364C>T
  hgvsp: ENSP00000469158.1:p.Arg122Trp
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471180
  ensembl transcript: ENST00000601712
  gene symbol: SPHK2
  hgvsc: ENST00000601712.1:c.256C>T
  hgvsp: ENSP00000471180.1:p.Arg86Trp
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471111
  ensembl transcript: ENST00000597434
  gene symbol: SPHK2
  hgvsc: ENST00000597434.1:c.256C>T
  hgvsp: ENSP00000471111.1:p.Arg86Trp
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000470092
  ensembl transcript: ENST00000600537
  gene symbol: SPHK2
  hgvsc: ENST00000600537.1:c.187C>T
  hgvsp: ENSP00000470092.1:p.Arg63Trp
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469448
  ensembl transcript: ENST00000601704
  gene symbol: SPHK2
  hgvsc: ENST00000601704.1:c.256C>T
  hgvsp: ENSP00000469448.1:p.Arg86Trp
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000245222
  ensembl transcript: ENST00000245222
  gene symbol: SPHK2
  hgvsc: ENST00000245222.4:c.364C>T
  hgvsp: ENSP00000245222.3:p.Arg122Trp
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000341091
  ensembl transcript: ENST00000340932
  gene symbol: SPHK2
  hgvsc: ENST00000340932.3:c.256C>T
  hgvsp: ENSP00000341091.3:p.Arg86Trp
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000599033
  gene symbol: SPHK2
  hgvsc: ENST00000599033.1:n.532C>T
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471205
  ensembl transcript: ENST00000599748
  gene symbol: SPHK2
  hgvsc: ENST00000599748.1:c.256C>T
  hgvsp: ENSP00000471205.1:p.Arg86Trp
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000410044
  ensembl transcript: ENST00000426514
  gene symbol: SPHK2
  hgvsc: ENST00000426514.2:c.40-1477C>T
  variant of: http://identifiers.org/hgnc/18859
canonical: true
consequence: missense
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5568
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg122Trp
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-49129473-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49129473
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49129473
    reference: chr 19
allele count: 2
allele frequency: 2.046203269832825e-5
allele num: 97742
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000245222
  ensembl transcript: ENST00000245222
  gene symbol: SPHK2
  hgvsc: ENST00000245222.4:c.365G>A
  hgvsp: ENSP00000245222.3:p.Arg122Gln
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469158
  ensembl transcript: ENST00000598088
  gene symbol: SPHK2
  hgvsc: ENST00000598088.1:c.365G>A
  hgvsp: ENSP00000469158.1:p.Arg122Gln
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471205
  ensembl transcript: ENST00000599748
  gene symbol: SPHK2
  hgvsc: ENST00000599748.1:c.257G>A
  hgvsp: ENSP00000471205.1:p.Arg86Gln
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471111
  ensembl transcript: ENST00000597434
  gene symbol: SPHK2
  hgvsc: ENST00000597434.1:c.257G>A
  hgvsp: ENSP00000471111.1:p.Arg86Gln
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000598574
  gene symbol: SPHK2
  hgvsc: ENST00000598574.1:n.1188G>A
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000410044
  ensembl transcript: ENST00000426514
  gene symbol: SPHK2
  hgvsc: ENST00000426514.2:c.40-1476G>A
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000472983
  ensembl transcript: ENST00000599029
  gene symbol: SPHK2
  hgvsc: ENST00000599029.1:c.257G>A
  hgvsp: ENSP00000472983.1:p.Arg86Gln
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471180
  ensembl transcript: ENST00000601712
  gene symbol: SPHK2
  hgvsc: ENST00000601712.1:c.257G>A
  hgvsp: ENSP00000471180.1:p.Arg86Gln
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000341091
  ensembl transcript: ENST00000340932
  gene symbol: SPHK2
  hgvsc: ENST00000340932.3:c.257G>A
  hgvsp: ENSP00000341091.3:p.Arg86Gln
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000470092
  ensembl transcript: ENST00000600537
  gene symbol: SPHK2
  hgvsc: ENST00000600537.1:c.188G>A
  hgvsp: ENSP00000470092.1:p.Arg63Gln
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469448
  ensembl transcript: ENST00000601704
  gene symbol: SPHK2
  hgvsc: ENST00000601704.1:c.257G>A
  hgvsp: ENSP00000469448.1:p.Arg86Gln
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000599033
  gene symbol: SPHK2
  hgvsc: ENST00000599033.1:n.533G>A
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000413369
  ensembl transcript: ENST00000443164
  gene symbol: SPHK2
  hgvsc: ENST00000443164.1:c.551G>A
  hgvsp: ENSP00000413369.1:p.Arg184Gln
  variant of: http://identifiers.org/hgnc/18859
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19614
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7622
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg122Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

19-49129473-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49129473
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49129473
    reference: chr 19
allele count: 2
allele frequency: 2.046203269832825e-5
allele num: 97742
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469448
  ensembl transcript: ENST00000601704
  gene symbol: SPHK2
  hgvsc: ENST00000601704.1:c.257G>T
  hgvsp: ENSP00000469448.1:p.Arg86Leu
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000341091
  ensembl transcript: ENST00000340932
  gene symbol: SPHK2
  hgvsc: ENST00000340932.3:c.257G>T
  hgvsp: ENSP00000341091.3:p.Arg86Leu
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471205
  ensembl transcript: ENST00000599748
  gene symbol: SPHK2
  hgvsc: ENST00000599748.1:c.257G>T
  hgvsp: ENSP00000471205.1:p.Arg86Leu
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000470092
  ensembl transcript: ENST00000600537
  gene symbol: SPHK2
  hgvsc: ENST00000600537.1:c.188G>T
  hgvsp: ENSP00000470092.1:p.Arg63Leu
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471180
  ensembl transcript: ENST00000601712
  gene symbol: SPHK2
  hgvsc: ENST00000601712.1:c.257G>T
  hgvsp: ENSP00000471180.1:p.Arg86Leu
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000410044
  ensembl transcript: ENST00000426514
  gene symbol: SPHK2
  hgvsc: ENST00000426514.2:c.40-1476G>T
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000599033
  gene symbol: SPHK2
  hgvsc: ENST00000599033.1:n.533G>T
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469158
  ensembl transcript: ENST00000598088
  gene symbol: SPHK2
  hgvsc: ENST00000598088.1:c.365G>T
  hgvsp: ENSP00000469158.1:p.Arg122Leu
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471111
  ensembl transcript: ENST00000597434
  gene symbol: SPHK2
  hgvsc: ENST00000597434.1:c.257G>T
  hgvsp: ENSP00000471111.1:p.Arg86Leu
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000413369
  ensembl transcript: ENST00000443164
  gene symbol: SPHK2
  hgvsc: ENST00000443164.1:c.551G>T
  hgvsp: ENSP00000413369.1:p.Arg184Leu
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000245222
  ensembl transcript: ENST00000245222
  gene symbol: SPHK2
  hgvsc: ENST00000245222.4:c.365G>T
  hgvsp: ENSP00000245222.3:p.Arg122Leu
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000598574
  gene symbol: SPHK2
  hgvsc: ENST00000598574.1:n.1188G>T
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000472983
  ensembl transcript: ENST00000599029
  gene symbol: SPHK2
  hgvsc: ENST00000599029.1:c.257G>T
  hgvsp: ENSP00000472983.1:p.Arg86Leu
  variant of: http://identifiers.org/hgnc/18859
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19614
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7622
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12223
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg122Leu
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

19-49129476-G-GCCGGCGCGGGGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49129476
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49129488
    reference: chr 19
allele count: 11
allele frequency: 1.14072384112828e-4
allele num: 96430
alternate allele: GCCGGCGCGGGGC
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469448
  ensembl transcript: ENST00000601704
  gene symbol: SPHK2
  hgvsp: ENSP00000469448.1:p.Gly90_Arg93dup
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000413369
  ensembl transcript: ENST00000443164
  gene symbol: SPHK2
  hgvsp: ENSP00000413369.1:p.Gly188_Arg191dup
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000245222
  ensembl transcript: ENST00000245222
  gene symbol: SPHK2
  hgvsp: ENSP00000245222.3:p.Gly126_Arg129dup
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000410044
  ensembl transcript: ENST00000426514
  gene symbol: SPHK2
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471180
  ensembl transcript: ENST00000601712
  gene symbol: SPHK2
  hgvsp: ENSP00000471180.1:p.Gly90_Arg93dup
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000341091
  ensembl transcript: ENST00000340932
  gene symbol: SPHK2
  hgvsp: ENSP00000341091.3:p.Gly90_Arg93dup
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469158
  ensembl transcript: ENST00000598088
  gene symbol: SPHK2
  hgvsp: ENSP00000469158.1:p.Gly126_Arg129dup
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000470092
  ensembl transcript: ENST00000600537
  gene symbol: SPHK2
  hgvsp: ENSP00000470092.1:p.Gly67_Arg70dup
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471205
  ensembl transcript: ENST00000599748
  gene symbol: SPHK2
  hgvsp: ENSP00000471205.1:p.Gly90_Arg93dup
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471111
  ensembl transcript: ENST00000597434
  gene symbol: SPHK2
  hgvsp: ENSP00000471111.1:p.Gly90_Arg93dup
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000599033
  gene symbol: SPHK2
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000598574
  gene symbol: SPHK2
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000472983
  ensembl transcript: ENST00000599029
  gene symbol: SPHK2
  hgvsp: ENSP00000472983.1:p.Gly90_Arg93dup
  variant of: http://identifiers.org/hgnc/18859
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8141
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5869
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13127
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly126_Arg129dup
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

19-49129478-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49129478
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49129478
    reference: chr 19
allele count: 5
allele frequency: 5.219642558877568e-5
allele num: 95792
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471111
  ensembl transcript: ENST00000597434
  gene symbol: SPHK2
  hgvsc: ENST00000597434.1:c.262C>T
  hgvsp: ENSP00000471111.1:p.Arg88Trp
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000413369
  ensembl transcript: ENST00000443164
  gene symbol: SPHK2
  hgvsc: ENST00000443164.1:c.556C>T
  hgvsp: ENSP00000413369.1:p.Arg186Trp
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000341091
  ensembl transcript: ENST00000340932
  gene symbol: SPHK2
  hgvsc: ENST00000340932.3:c.262C>T
  hgvsp: ENSP00000341091.3:p.Arg88Trp
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000599033
  gene symbol: SPHK2
  hgvsc: ENST00000599033.1:n.538C>T
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000410044
  ensembl transcript: ENST00000426514
  gene symbol: SPHK2
  hgvsc: ENST00000426514.2:c.40-1471C>T
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471205
  ensembl transcript: ENST00000599748
  gene symbol: SPHK2
  hgvsc: ENST00000599748.1:c.262C>T
  hgvsp: ENSP00000471205.1:p.Arg88Trp
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469448
  ensembl transcript: ENST00000601704
  gene symbol: SPHK2
  hgvsc: ENST00000601704.1:c.262C>T
  hgvsp: ENSP00000469448.1:p.Arg88Trp
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000598574
  gene symbol: SPHK2
  hgvsc: ENST00000598574.1:n.1193C>T
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000470092
  ensembl transcript: ENST00000600537
  gene symbol: SPHK2
  hgvsc: ENST00000600537.1:c.193C>T
  hgvsp: ENSP00000470092.1:p.Arg65Trp
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000245222
  ensembl transcript: ENST00000245222
  gene symbol: SPHK2
  hgvsc: ENST00000245222.4:c.370C>T
  hgvsp: ENSP00000245222.3:p.Arg124Trp
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469158
  ensembl transcript: ENST00000598088
  gene symbol: SPHK2
  hgvsc: ENST00000598088.1:c.370C>T
  hgvsp: ENSP00000469158.1:p.Arg124Trp
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000472983
  ensembl transcript: ENST00000599029
  gene symbol: SPHK2
  hgvsc: ENST00000599029.1:c.262C>T
  hgvsp: ENSP00000472983.1:p.Arg88Trp
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471180
  ensembl transcript: ENST00000601712
  gene symbol: SPHK2
  hgvsc: ENST00000601712.1:c.262C>T
  hgvsp: ENSP00000471180.1:p.Arg88Trp
  variant of: http://identifiers.org/hgnc/18859
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13427
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg124Trp
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

19-49129479-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49129479
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49129479
    reference: chr 19
allele count: 1
allele frequency: 1.044299170826458e-5
allele num: 95758
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000413369
  ensembl transcript: ENST00000443164
  gene symbol: SPHK2
  hgvsc: ENST00000443164.1:c.557G>A
  hgvsp: ENSP00000413369.1:p.Arg186Gln
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000472983
  ensembl transcript: ENST00000599029
  gene symbol: SPHK2
  hgvsc: ENST00000599029.1:c.263G>A
  hgvsp: ENSP00000472983.1:p.Arg88Gln
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000341091
  ensembl transcript: ENST00000340932
  gene symbol: SPHK2
  hgvsc: ENST00000340932.3:c.263G>A
  hgvsp: ENSP00000341091.3:p.Arg88Gln
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471180
  ensembl transcript: ENST00000601712
  gene symbol: SPHK2
  hgvsc: ENST00000601712.1:c.263G>A
  hgvsp: ENSP00000471180.1:p.Arg88Gln
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000599033
  gene symbol: SPHK2
  hgvsc: ENST00000599033.1:n.539G>A
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471205
  ensembl transcript: ENST00000599748
  gene symbol: SPHK2
  hgvsc: ENST00000599748.1:c.263G>A
  hgvsp: ENSP00000471205.1:p.Arg88Gln
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469158
  ensembl transcript: ENST00000598088
  gene symbol: SPHK2
  hgvsc: ENST00000598088.1:c.371G>A
  hgvsp: ENSP00000469158.1:p.Arg124Gln
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000410044
  ensembl transcript: ENST00000426514
  gene symbol: SPHK2
  hgvsc: ENST00000426514.2:c.40-1470G>A
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000598574
  gene symbol: SPHK2
  hgvsc: ENST00000598574.1:n.1194G>A
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000245222
  ensembl transcript: ENST00000245222
  gene symbol: SPHK2
  hgvsc: ENST00000245222.4:c.371G>A
  hgvsp: ENSP00000245222.3:p.Arg124Gln
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469448
  ensembl transcript: ENST00000601704
  gene symbol: SPHK2
  hgvsc: ENST00000601704.1:c.263G>A
  hgvsp: ENSP00000469448.1:p.Arg88Gln
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471111
  ensembl transcript: ENST00000597434
  gene symbol: SPHK2
  hgvsc: ENST00000597434.1:c.263G>A
  hgvsp: ENSP00000471111.1:p.Arg88Gln
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000470092
  ensembl transcript: ENST00000600537
  gene symbol: SPHK2
  hgvsc: ENST00000600537.1:c.194G>A
  hgvsp: ENSP00000470092.1:p.Arg65Gln
  variant of: http://identifiers.org/hgnc/18859
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13397
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8380
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2978
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg124Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

19-49129481-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49129481
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49129481
    reference: chr 19
allele count: 1
allele frequency: 1.059120083035014e-5
allele num: 94418
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471111
  ensembl transcript: ENST00000597434
  gene symbol: SPHK2
  hgvsc: ENST00000597434.1:c.265C>T
  hgvsp: ENSP00000471111.1:p.Arg89Cys
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000245222
  ensembl transcript: ENST00000245222
  gene symbol: SPHK2
  hgvsc: ENST00000245222.4:c.373C>T
  hgvsp: ENSP00000245222.3:p.Arg125Cys
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471180
  ensembl transcript: ENST00000601712
  gene symbol: SPHK2
  hgvsc: ENST00000601712.1:c.265C>T
  hgvsp: ENSP00000471180.1:p.Arg89Cys
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471205
  ensembl transcript: ENST00000599748
  gene symbol: SPHK2
  hgvsc: ENST00000599748.1:c.265C>T
  hgvsp: ENSP00000471205.1:p.Arg89Cys
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000599033
  gene symbol: SPHK2
  hgvsc: ENST00000599033.1:n.541C>T
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469448
  ensembl transcript: ENST00000601704
  gene symbol: SPHK2
  hgvsc: ENST00000601704.1:c.265C>T
  hgvsp: ENSP00000469448.1:p.Arg89Cys
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000472983
  ensembl transcript: ENST00000599029
  gene symbol: SPHK2
  hgvsc: ENST00000599029.1:c.265C>T
  hgvsp: ENSP00000472983.1:p.Arg89Cys
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000341091
  ensembl transcript: ENST00000340932
  gene symbol: SPHK2
  hgvsc: ENST00000340932.3:c.265C>T
  hgvsp: ENSP00000341091.3:p.Arg89Cys
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469158
  ensembl transcript: ENST00000598088
  gene symbol: SPHK2
  hgvsc: ENST00000598088.1:c.373C>T
  hgvsp: ENSP00000469158.1:p.Arg125Cys
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000598574
  gene symbol: SPHK2
  hgvsc: ENST00000598574.1:n.1196C>T
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000470092
  ensembl transcript: ENST00000600537
  gene symbol: SPHK2
  hgvsc: ENST00000600537.1:c.196C>T
  hgvsp: ENSP00000470092.1:p.Arg66Cys
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000410044
  ensembl transcript: ENST00000426514
  gene symbol: SPHK2
  hgvsc: ENST00000426514.2:c.40-1468C>T
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000413369
  ensembl transcript: ENST00000443164
  gene symbol: SPHK2
  hgvsc: ENST00000443164.1:c.559C>T
  hgvsp: ENSP00000413369.1:p.Arg187Cys
  variant of: http://identifiers.org/hgnc/18859
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6694
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14763
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg125Cys
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

19-49129483-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49129483
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49129483
    reference: chr 19
allele count: 26
allele frequency: 2.788921545491601e-4
allele num: 93226
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471111
  ensembl transcript: ENST00000597434
  gene symbol: SPHK2
  hgvsc: ENST00000597434.1:c.267C>T
  hgvsp: ENST00000597434.1:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471205
  ensembl transcript: ENST00000599748
  gene symbol: SPHK2
  hgvsc: ENST00000599748.1:c.267C>T
  hgvsp: ENST00000599748.1:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471180
  ensembl transcript: ENST00000601712
  gene symbol: SPHK2
  hgvsc: ENST00000601712.1:c.267C>T
  hgvsp: ENST00000601712.1:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000413369
  ensembl transcript: ENST00000443164
  gene symbol: SPHK2
  hgvsc: ENST00000443164.1:c.561C>T
  hgvsp: ENST00000443164.1:c.561C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469158
  ensembl transcript: ENST00000598088
  gene symbol: SPHK2
  hgvsc: ENST00000598088.1:c.375C>T
  hgvsp: ENST00000598088.1:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000341091
  ensembl transcript: ENST00000340932
  gene symbol: SPHK2
  hgvsc: ENST00000340932.3:c.267C>T
  hgvsp: ENST00000340932.3:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469448
  ensembl transcript: ENST00000601704
  gene symbol: SPHK2
  hgvsc: ENST00000601704.1:c.267C>T
  hgvsp: ENST00000601704.1:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000245222
  ensembl transcript: ENST00000245222
  gene symbol: SPHK2
  hgvsc: ENST00000245222.4:c.375C>T
  hgvsp: ENST00000245222.4:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000599033
  gene symbol: SPHK2
  hgvsc: ENST00000599033.1:n.543C>T
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000470092
  ensembl transcript: ENST00000600537
  gene symbol: SPHK2
  hgvsc: ENST00000600537.1:c.198C>T
  hgvsp: ENST00000600537.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000472983
  ensembl transcript: ENST00000599029
  gene symbol: SPHK2
  hgvsc: ENST00000599029.1:c.267C>T
  hgvsp: ENST00000599029.1:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000410044
  ensembl transcript: ENST00000426514
  gene symbol: SPHK2
  hgvsc: ENST00000426514.2:c.40-1466C>T
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000598574
  gene symbol: SPHK2
  hgvsc: ENST00000598574.1:n.1198C>T
  variant of: http://identifiers.org/hgnc/18859
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16128
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 9134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7350
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15616
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6975
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg125Arg
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-49129484-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49129484
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49129484
    reference: chr 19
allele count: 1
allele frequency: 1.073030452604245e-5
allele num: 93194
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471180
  ensembl transcript: ENST00000601712
  gene symbol: SPHK2
  hgvsc: ENST00000601712.1:c.268G>A
  hgvsp: ENSP00000471180.1:p.Gly90Arg
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000410044
  ensembl transcript: ENST00000426514
  gene symbol: SPHK2
  hgvsc: ENST00000426514.2:c.40-1465G>A
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000341091
  ensembl transcript: ENST00000340932
  gene symbol: SPHK2
  hgvsc: ENST00000340932.3:c.268G>A
  hgvsp: ENSP00000341091.3:p.Gly90Arg
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000470092
  ensembl transcript: ENST00000600537
  gene symbol: SPHK2
  hgvsc: ENST00000600537.1:c.199G>A
  hgvsp: ENSP00000470092.1:p.Gly67Arg
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471205
  ensembl transcript: ENST00000599748
  gene symbol: SPHK2
  hgvsc: ENST00000599748.1:c.268G>A
  hgvsp: ENSP00000471205.1:p.Gly90Arg
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469158
  ensembl transcript: ENST00000598088
  gene symbol: SPHK2
  hgvsc: ENST00000598088.1:c.376G>A
  hgvsp: ENSP00000469158.1:p.Gly126Arg
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000598574
  gene symbol: SPHK2
  hgvsc: ENST00000598574.1:n.1199G>A
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471111
  ensembl transcript: ENST00000597434
  gene symbol: SPHK2
  hgvsc: ENST00000597434.1:c.268G>A
  hgvsp: ENSP00000471111.1:p.Gly90Arg
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000472983
  ensembl transcript: ENST00000599029
  gene symbol: SPHK2
  hgvsc: ENST00000599029.1:c.268G>A
  hgvsp: ENSP00000472983.1:p.Gly90Arg
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000245222
  ensembl transcript: ENST00000245222
  gene symbol: SPHK2
  hgvsc: ENST00000245222.4:c.376G>A
  hgvsp: ENSP00000245222.3:p.Gly126Arg
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000413369
  ensembl transcript: ENST00000443164
  gene symbol: SPHK2
  hgvsc: ENST00000443164.1:c.562G>A
  hgvsp: ENSP00000413369.1:p.Gly188Arg
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469448
  ensembl transcript: ENST00000601704
  gene symbol: SPHK2
  hgvsc: ENST00000601704.1:c.268G>A
  hgvsp: ENSP00000469448.1:p.Gly90Arg
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000599033
  gene symbol: SPHK2
  hgvsc: ENST00000599033.1:n.544G>A
  variant of: http://identifiers.org/hgnc/18859
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15610
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16226
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly126Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

19-49129486-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49129486
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49129486
    reference: chr 19
allele count: 5481
allele frequency: 5.885827194433109e-2
allele num: 93122
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471111
  ensembl transcript: ENST00000597434
  gene symbol: SPHK2
  hgvsc: ENST00000597434.1:c.270G>A
  hgvsp: ENST00000597434.1:c.270G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000245222
  ensembl transcript: ENST00000245222
  gene symbol: SPHK2
  hgvsc: ENST00000245222.4:c.378G>A
  hgvsp: ENST00000245222.4:c.378G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469158
  ensembl transcript: ENST00000598088
  gene symbol: SPHK2
  hgvsc: ENST00000598088.1:c.378G>A
  hgvsp: ENST00000598088.1:c.378G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469448
  ensembl transcript: ENST00000601704
  gene symbol: SPHK2
  hgvsc: ENST00000601704.1:c.270G>A
  hgvsp: ENST00000601704.1:c.270G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471205
  ensembl transcript: ENST00000599748
  gene symbol: SPHK2
  hgvsc: ENST00000599748.1:c.270G>A
  hgvsp: ENST00000599748.1:c.270G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000472983
  ensembl transcript: ENST00000599029
  gene symbol: SPHK2
  hgvsc: ENST00000599029.1:c.270G>A
  hgvsp: ENST00000599029.1:c.270G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000341091
  ensembl transcript: ENST00000340932
  gene symbol: SPHK2
  hgvsc: ENST00000340932.3:c.270G>A
  hgvsp: ENST00000340932.3:c.270G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000413369
  ensembl transcript: ENST00000443164
  gene symbol: SPHK2
  hgvsc: ENST00000443164.1:c.564G>A
  hgvsp: ENST00000443164.1:c.564G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471180
  ensembl transcript: ENST00000601712
  gene symbol: SPHK2
  hgvsc: ENST00000601712.1:c.270G>A
  hgvsp: ENST00000601712.1:c.270G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000470092
  ensembl transcript: ENST00000600537
  gene symbol: SPHK2
  hgvsc: ENST00000600537.1:c.201G>A
  hgvsp: ENST00000600537.1:c.201G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000599033
  gene symbol: SPHK2
  hgvsc: ENST00000599033.1:n.546G>A
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000598574
  gene symbol: SPHK2
  hgvsc: ENST00000598574.1:n.1201G>A
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000410044
  ensembl transcript: ENST00000426514
  gene symbol: SPHK2
  hgvsc: ENST00000426514.2:c.40-1463G>A
  variant of: http://identifiers.org/hgnc/18859
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9226
  bin: 7.5e0
  variant carriers: 270
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 3.25e1
  variant carriers: 603
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3121
  bin: 2.5e0
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 6954
  bin: 2.75e1
  variant carriers: 1094
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 15117
  bin: 2.25e1
  variant carriers: 1271
genotype quality: GenotypeQuality
hgvs: p.Gly126Gly
num of homozygotes: 169
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

19-49129486-G-GGCCCGGCGCAGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49129486
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49129498
    reference: chr 19
allele count: 2
allele frequency: 2.147720195012994e-5
allele num: 93122
alternate allele: GGCCCGGCGCAGA
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000413369
  ensembl transcript: ENST00000443164
  gene symbol: SPHK2
  hgvsp: ENSP00000413369.1:p.Arg190_Ala193dup
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000598574
  gene symbol: SPHK2
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471180
  ensembl transcript: ENST00000601712
  gene symbol: SPHK2
  hgvsp: ENSP00000471180.1:p.Arg92_Ala95dup
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000245222
  ensembl transcript: ENST00000245222
  gene symbol: SPHK2
  hgvsp: ENSP00000245222.3:p.Arg128_Ala131dup
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471111
  ensembl transcript: ENST00000597434
  gene symbol: SPHK2
  hgvsp: ENSP00000471111.1:p.Arg92_Ala95dup
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000341091
  ensembl transcript: ENST00000340932
  gene symbol: SPHK2
  hgvsp: ENSP00000341091.3:p.Arg92_Ala95dup
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469448
  ensembl transcript: ENST00000601704
  gene symbol: SPHK2
  hgvsp: ENSP00000469448.1:p.Arg92_Ala95dup
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471205
  ensembl transcript: ENST00000599748
  gene symbol: SPHK2
  hgvsp: ENSP00000471205.1:p.Arg92_Ala95dup
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469158
  ensembl transcript: ENST00000598088
  gene symbol: SPHK2
  hgvsp: ENSP00000469158.1:p.Arg128_Ala131dup
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000472983
  ensembl transcript: ENST00000599029
  gene symbol: SPHK2
  hgvsp: ENSP00000472983.1:p.Arg92_Ala95dup
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000470092
  ensembl transcript: ENST00000600537
  gene symbol: SPHK2
  hgvsp: ENSP00000470092.1:p.Arg69_Ala72dup
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000410044
  ensembl transcript: ENST00000426514
  gene symbol: SPHK2
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000599033
  gene symbol: SPHK2
  variant of: http://identifiers.org/hgnc/18859
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7385
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15117
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15775
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9226
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg128_Ala131dup
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

19-49129490-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49129490
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49129490
    reference: chr 19
allele count: 2
allele frequency: 2.203808180535966e-5
allele num: 90752
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469448
  ensembl transcript: ENST00000601704
  gene symbol: SPHK2
  hgvsc: ENST00000601704.1:c.274C>T
  hgvsp: ENSP00000469448.1:p.Arg92Trp
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000472983
  ensembl transcript: ENST00000599029
  gene symbol: SPHK2
  hgvsc: ENST00000599029.1:c.274C>T
  hgvsp: ENSP00000472983.1:p.Arg92Trp
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000599033
  gene symbol: SPHK2
  hgvsc: ENST00000599033.1:n.550C>T
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000598574
  gene symbol: SPHK2
  hgvsc: ENST00000598574.1:n.1205C>T
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471205
  ensembl transcript: ENST00000599748
  gene symbol: SPHK2
  hgvsc: ENST00000599748.1:c.274C>T
  hgvsp: ENSP00000471205.1:p.Arg92Trp
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000413369
  ensembl transcript: ENST00000443164
  gene symbol: SPHK2
  hgvsc: ENST00000443164.1:c.568C>T
  hgvsp: ENSP00000413369.1:p.Arg190Trp
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471111
  ensembl transcript: ENST00000597434
  gene symbol: SPHK2
  hgvsc: ENST00000597434.1:c.274C>T
  hgvsp: ENSP00000471111.1:p.Arg92Trp
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000341091
  ensembl transcript: ENST00000340932
  gene symbol: SPHK2
  hgvsc: ENST00000340932.3:c.274C>T
  hgvsp: ENSP00000341091.3:p.Arg92Trp
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000410044
  ensembl transcript: ENST00000426514
  gene symbol: SPHK2
  hgvsc: ENST00000426514.2:c.40-1459C>T
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471180
  ensembl transcript: ENST00000601712
  gene symbol: SPHK2
  hgvsc: ENST00000601712.1:c.274C>T
  hgvsp: ENSP00000471180.1:p.Arg92Trp
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000245222
  ensembl transcript: ENST00000245222
  gene symbol: SPHK2
  hgvsc: ENST00000245222.4:c.382C>T
  hgvsp: ENSP00000245222.3:p.Arg128Trp
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000470092
  ensembl transcript: ENST00000600537
  gene symbol: SPHK2
  hgvsc: ENST00000600537.1:c.205C>T
  hgvsp: ENSP00000470092.1:p.Arg69Trp
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469158
  ensembl transcript: ENST00000598088
  gene symbol: SPHK2
  hgvsc: ENST00000598088.1:c.382C>T
  hgvsp: ENSP00000469158.1:p.Arg128Trp
  variant of: http://identifiers.org/hgnc/18859
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17520
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5912
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13893
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10081
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg128Trp
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

19-49129491-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49129491
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49129491
    reference: chr 19
allele count: 3
allele frequency: 3.307097030226867e-5
allele num: 90714
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000413369
  ensembl transcript: ENST00000443164
  gene symbol: SPHK2
  hgvsc: ENST00000443164.1:c.569G>A
  hgvsp: ENSP00000413369.1:p.Arg190Gln
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471180
  ensembl transcript: ENST00000601712
  gene symbol: SPHK2
  hgvsc: ENST00000601712.1:c.275G>A
  hgvsp: ENSP00000471180.1:p.Arg92Gln
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000341091
  ensembl transcript: ENST00000340932
  gene symbol: SPHK2
  hgvsc: ENST00000340932.3:c.275G>A
  hgvsp: ENSP00000341091.3:p.Arg92Gln
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000598574
  gene symbol: SPHK2
  hgvsc: ENST00000598574.1:n.1206G>A
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000245222
  ensembl transcript: ENST00000245222
  gene symbol: SPHK2
  hgvsc: ENST00000245222.4:c.383G>A
  hgvsp: ENSP00000245222.3:p.Arg128Gln
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471205
  ensembl transcript: ENST00000599748
  gene symbol: SPHK2
  hgvsc: ENST00000599748.1:c.275G>A
  hgvsp: ENSP00000471205.1:p.Arg92Gln
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000470092
  ensembl transcript: ENST00000600537
  gene symbol: SPHK2
  hgvsc: ENST00000600537.1:c.206G>A
  hgvsp: ENSP00000470092.1:p.Arg69Gln
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469158
  ensembl transcript: ENST00000598088
  gene symbol: SPHK2
  hgvsc: ENST00000598088.1:c.383G>A
  hgvsp: ENSP00000469158.1:p.Arg128Gln
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469448
  ensembl transcript: ENST00000601704
  gene symbol: SPHK2
  hgvsc: ENST00000601704.1:c.275G>A
  hgvsp: ENSP00000469448.1:p.Arg92Gln
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000472983
  ensembl transcript: ENST00000599029
  gene symbol: SPHK2
  hgvsc: ENST00000599029.1:c.275G>A
  hgvsp: ENSP00000472983.1:p.Arg92Gln
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000410044
  ensembl transcript: ENST00000426514
  gene symbol: SPHK2
  hgvsc: ENST00000426514.2:c.40-1458G>A
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471111
  ensembl transcript: ENST00000597434
  gene symbol: SPHK2
  hgvsc: ENST00000597434.1:c.275G>A
  hgvsp: ENSP00000471111.1:p.Arg92Gln
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000599033
  gene symbol: SPHK2
  hgvsc: ENST00000599033.1:n.551G>A
  variant of: http://identifiers.org/hgnc/18859
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14034
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17501
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg128Gln
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum

19-49129491-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49129491
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49129491
    reference: chr 19
allele count: 1
allele frequency: 1.102365676742289e-5
allele num: 90714
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469448
  ensembl transcript: ENST00000601704
  gene symbol: SPHK2
  hgvsc: ENST00000601704.1:c.275G>T
  hgvsp: ENSP00000469448.1:p.Arg92Leu
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000598574
  gene symbol: SPHK2
  hgvsc: ENST00000598574.1:n.1206G>T
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000341091
  ensembl transcript: ENST00000340932
  gene symbol: SPHK2
  hgvsc: ENST00000340932.3:c.275G>T
  hgvsp: ENSP00000341091.3:p.Arg92Leu
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000410044
  ensembl transcript: ENST00000426514
  gene symbol: SPHK2
  hgvsc: ENST00000426514.2:c.40-1458G>T
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471180
  ensembl transcript: ENST00000601712
  gene symbol: SPHK2
  hgvsc: ENST00000601712.1:c.275G>T
  hgvsp: ENSP00000471180.1:p.Arg92Leu
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000245222
  ensembl transcript: ENST00000245222
  gene symbol: SPHK2
  hgvsc: ENST00000245222.4:c.383G>T
  hgvsp: ENSP00000245222.3:p.Arg128Leu
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000472983
  ensembl transcript: ENST00000599029
  gene symbol: SPHK2
  hgvsc: ENST00000599029.1:c.275G>T
  hgvsp: ENSP00000472983.1:p.Arg92Leu
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471111
  ensembl transcript: ENST00000597434
  gene symbol: SPHK2
  hgvsc: ENST00000597434.1:c.275G>T
  hgvsp: ENSP00000471111.1:p.Arg92Leu
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000599033
  gene symbol: SPHK2
  hgvsc: ENST00000599033.1:n.551G>T
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000413369
  ensembl transcript: ENST00000443164
  gene symbol: SPHK2
  hgvsc: ENST00000443164.1:c.569G>T
  hgvsp: ENSP00000413369.1:p.Arg190Leu
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471205
  ensembl transcript: ENST00000599748
  gene symbol: SPHK2
  hgvsc: ENST00000599748.1:c.275G>T
  hgvsp: ENSP00000471205.1:p.Arg92Leu
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469158
  ensembl transcript: ENST00000598088
  gene symbol: SPHK2
  hgvsc: ENST00000598088.1:c.383G>T
  hgvsp: ENSP00000469158.1:p.Arg128Leu
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000470092
  ensembl transcript: ENST00000600537
  gene symbol: SPHK2
  hgvsc: ENST00000600537.1:c.206G>T
  hgvsp: ENSP00000470092.1:p.Arg69Leu
  variant of: http://identifiers.org/hgnc/18859
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17501
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14034
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg128Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: QD

19-49129492-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49129492
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49129492
    reference: chr 19
allele count: 1
allele frequency: 1.101734129519864e-5
allele num: 90766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000341091
  ensembl transcript: ENST00000340932
  gene symbol: SPHK2
  hgvsc: ENST00000340932.3:c.276G>T
  hgvsp: ENST00000340932.3:c.276G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000472983
  ensembl transcript: ENST00000599029
  gene symbol: SPHK2
  hgvsc: ENST00000599029.1:c.276G>T
  hgvsp: ENST00000599029.1:c.276G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000245222
  ensembl transcript: ENST00000245222
  gene symbol: SPHK2
  hgvsc: ENST00000245222.4:c.384G>T
  hgvsp: ENST00000245222.4:c.384G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000599033
  gene symbol: SPHK2
  hgvsc: ENST00000599033.1:n.552G>T
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471205
  ensembl transcript: ENST00000599748
  gene symbol: SPHK2
  hgvsc: ENST00000599748.1:c.276G>T
  hgvsp: ENST00000599748.1:c.276G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469158
  ensembl transcript: ENST00000598088
  gene symbol: SPHK2
  hgvsc: ENST00000598088.1:c.384G>T
  hgvsp: ENST00000598088.1:c.384G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000413369
  ensembl transcript: ENST00000443164
  gene symbol: SPHK2
  hgvsc: ENST00000443164.1:c.570G>T
  hgvsp: ENST00000443164.1:c.570G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469448
  ensembl transcript: ENST00000601704
  gene symbol: SPHK2
  hgvsc: ENST00000601704.1:c.276G>T
  hgvsp: ENST00000601704.1:c.276G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000470092
  ensembl transcript: ENST00000600537
  gene symbol: SPHK2
  hgvsc: ENST00000600537.1:c.207G>T
  hgvsp: ENST00000600537.1:c.207G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471111
  ensembl transcript: ENST00000597434
  gene symbol: SPHK2
  hgvsc: ENST00000597434.1:c.276G>T
  hgvsp: ENST00000597434.1:c.276G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471180
  ensembl transcript: ENST00000601712
  gene symbol: SPHK2
  hgvsc: ENST00000601712.1:c.276G>T
  hgvsp: ENST00000601712.1:c.276G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000598574
  gene symbol: SPHK2
  hgvsc: ENST00000598574.1:n.1207G>T
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000410044
  ensembl transcript: ENST00000426514
  gene symbol: SPHK2
  hgvsc: ENST00000426514.2:c.40-1457G>T
  variant of: http://identifiers.org/hgnc/18859
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7757
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14035
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg128Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

19-49129493-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49129493
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49129493
    reference: chr 19
allele count: 2
allele frequency: 2.221925965426832e-5
allele num: 90012
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000245222
  ensembl transcript: ENST00000245222
  gene symbol: SPHK2
  hgvsc: ENST00000245222.4:c.385C>T
  hgvsp: ENSP00000245222.3:p.Arg129Cys
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000599033
  gene symbol: SPHK2
  hgvsc: ENST00000599033.1:n.553C>T
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000341091
  ensembl transcript: ENST00000340932
  gene symbol: SPHK2
  hgvsc: ENST00000340932.3:c.277C>T
  hgvsp: ENSP00000341091.3:p.Arg93Cys
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471205
  ensembl transcript: ENST00000599748
  gene symbol: SPHK2
  hgvsc: ENST00000599748.1:c.277C>T
  hgvsp: ENSP00000471205.1:p.Arg93Cys
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000598574
  gene symbol: SPHK2
  hgvsc: ENST00000598574.1:n.1208C>T
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471111
  ensembl transcript: ENST00000597434
  gene symbol: SPHK2
  hgvsc: ENST00000597434.1:c.277C>T
  hgvsp: ENSP00000471111.1:p.Arg93Cys
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471180
  ensembl transcript: ENST00000601712
  gene symbol: SPHK2
  hgvsc: ENST00000601712.1:c.277C>T
  hgvsp: ENSP00000471180.1:p.Arg93Cys
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469448
  ensembl transcript: ENST00000601704
  gene symbol: SPHK2
  hgvsc: ENST00000601704.1:c.277C>T
  hgvsp: ENSP00000469448.1:p.Arg93Cys
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469158
  ensembl transcript: ENST00000598088
  gene symbol: SPHK2
  hgvsc: ENST00000598088.1:c.385C>T
  hgvsp: ENSP00000469158.1:p.Arg129Cys
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000410044
  ensembl transcript: ENST00000426514
  gene symbol: SPHK2
  hgvsc: ENST00000426514.2:c.40-1456C>T
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000472983
  ensembl transcript: ENST00000599029
  gene symbol: SPHK2
  hgvsc: ENST00000599029.1:c.277C>T
  hgvsp: ENSP00000472983.1:p.Arg93Cys
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000413369
  ensembl transcript: ENST00000443164
  gene symbol: SPHK2
  hgvsc: ENST00000443164.1:c.571C>T
  hgvsp: ENSP00000413369.1:p.Arg191Cys
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000470092
  ensembl transcript: ENST00000600537
  gene symbol: SPHK2
  hgvsc: ENST00000600537.1:c.208C>T
  hgvsp: ENSP00000470092.1:p.Arg70Cys
  variant of: http://identifiers.org/hgnc/18859
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10351
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3523
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17768
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5351
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg129Cys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

19-49129494-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49129494
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49129494
    reference: chr 19
allele count: 11
allele frequency: 1.223881261265271e-4
allele num: 89878
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471111
  ensembl transcript: ENST00000597434
  gene symbol: SPHK2
  hgvsc: ENST00000597434.1:c.278G>A
  hgvsp: ENSP00000471111.1:p.Arg93His
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471180
  ensembl transcript: ENST00000601712
  gene symbol: SPHK2
  hgvsc: ENST00000601712.1:c.278G>A
  hgvsp: ENSP00000471180.1:p.Arg93His
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000598574
  gene symbol: SPHK2
  hgvsc: ENST00000598574.1:n.1209G>A
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000599033
  gene symbol: SPHK2
  hgvsc: ENST00000599033.1:n.554G>A
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000245222
  ensembl transcript: ENST00000245222
  gene symbol: SPHK2
  hgvsc: ENST00000245222.4:c.386G>A
  hgvsp: ENSP00000245222.3:p.Arg129His
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471205
  ensembl transcript: ENST00000599748
  gene symbol: SPHK2
  hgvsc: ENST00000599748.1:c.278G>A
  hgvsp: ENSP00000471205.1:p.Arg93His
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469448
  ensembl transcript: ENST00000601704
  gene symbol: SPHK2
  hgvsc: ENST00000601704.1:c.278G>A
  hgvsp: ENSP00000469448.1:p.Arg93His
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000470092
  ensembl transcript: ENST00000600537
  gene symbol: SPHK2
  hgvsc: ENST00000600537.1:c.209G>A
  hgvsp: ENSP00000470092.1:p.Arg70His
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000413369
  ensembl transcript: ENST00000443164
  gene symbol: SPHK2
  hgvsc: ENST00000443164.1:c.572G>A
  hgvsp: ENSP00000413369.1:p.Arg191His
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469158
  ensembl transcript: ENST00000598088
  gene symbol: SPHK2
  hgvsc: ENST00000598088.1:c.386G>A
  hgvsp: ENSP00000469158.1:p.Arg129His
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000341091
  ensembl transcript: ENST00000340932
  gene symbol: SPHK2
  hgvsc: ENST00000340932.3:c.278G>A
  hgvsp: ENSP00000341091.3:p.Arg93His
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000410044
  ensembl transcript: ENST00000426514
  gene symbol: SPHK2
  hgvsc: ENST00000426514.2:c.40-1455G>A
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000472983
  ensembl transcript: ENST00000599029
  gene symbol: SPHK2
  hgvsc: ENST00000599029.1:c.278G>A
  hgvsp: ENSP00000472983.1:p.Arg93His
  variant of: http://identifiers.org/hgnc/18859
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7921
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 17771
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13863
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10447
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3526
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg129His
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS

19-49129499-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49129499
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49129499
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 89128
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469448
  ensembl transcript: ENST00000601704
  gene symbol: SPHK2
  hgvsc: ENST00000601704.1:c.283G>A
  hgvsp: ENSP00000469448.1:p.Ala95Thr
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000472983
  ensembl transcript: ENST00000599029
  gene symbol: SPHK2
  hgvsc: ENST00000599029.1:c.283G>A
  hgvsp: ENSP00000472983.1:p.Ala95Thr
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471205
  ensembl transcript: ENST00000599748
  gene symbol: SPHK2
  hgvsc: ENST00000599748.1:c.283G>A
  hgvsp: ENSP00000471205.1:p.Ala95Thr
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471111
  ensembl transcript: ENST00000597434
  gene symbol: SPHK2
  hgvsc: ENST00000597434.1:c.283G>A
  hgvsp: ENSP00000471111.1:p.Ala95Thr
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000410044
  ensembl transcript: ENST00000426514
  gene symbol: SPHK2
  hgvsc: ENST00000426514.2:c.40-1450G>A
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000245222
  ensembl transcript: ENST00000245222
  gene symbol: SPHK2
  hgvsc: ENST00000245222.4:c.391G>A
  hgvsp: ENSP00000245222.3:p.Ala131Thr
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000470092
  ensembl transcript: ENST00000600537
  gene symbol: SPHK2
  hgvsc: ENST00000600537.1:c.214G>A
  hgvsp: ENSP00000470092.1:p.Ala72Thr
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000341091
  ensembl transcript: ENST00000340932
  gene symbol: SPHK2
  hgvsc: ENST00000340932.3:c.283G>A
  hgvsp: ENSP00000341091.3:p.Ala95Thr
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471180
  ensembl transcript: ENST00000601712
  gene symbol: SPHK2
  hgvsc: ENST00000601712.1:c.283G>A
  hgvsp: ENSP00000471180.1:p.Ala95Thr
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000598574
  gene symbol: SPHK2
  hgvsc: ENST00000598574.1:n.1214G>A
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000413369
  ensembl transcript: ENST00000443164
  gene symbol: SPHK2
  hgvsc: ENST00000443164.1:c.577G>A
  hgvsp: ENSP00000413369.1:p.Ala193Thr
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469158
  ensembl transcript: ENST00000598088
  gene symbol: SPHK2
  hgvsc: ENST00000598088.1:c.391G>A
  hgvsp: ENSP00000469158.1:p.Ala131Thr
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000599033
  gene symbol: SPHK2
  hgvsc: ENST00000599033.1:n.559G>A
  variant of: http://identifiers.org/hgnc/18859
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10838
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8808
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3691
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala131Thr
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

19-49129506-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49129506
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49129506
    reference: chr 19
allele count: 8
allele frequency: 9.231053263177328e-5
allele num: 86664
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469158
  ensembl transcript: ENST00000598088
  gene symbol: SPHK2
  hgvsc: ENST00000598088.1:c.398G>A
  hgvsp: ENSP00000469158.1:p.Arg133His
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000470092
  ensembl transcript: ENST00000600537
  gene symbol: SPHK2
  hgvsc: ENST00000600537.1:c.221G>A
  hgvsp: ENSP00000470092.1:p.Arg74His
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000598574
  gene symbol: SPHK2
  hgvsc: ENST00000598574.1:n.1221G>A
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000599033
  gene symbol: SPHK2
  hgvsc: ENST00000599033.1:n.566G>A
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000472983
  ensembl transcript: ENST00000599029
  gene symbol: SPHK2
  hgvsc: ENST00000599029.1:c.290G>A
  hgvsp: ENSP00000472983.1:p.Arg97His
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000413369
  ensembl transcript: ENST00000443164
  gene symbol: SPHK2
  hgvsc: ENST00000443164.1:c.584G>A
  hgvsp: ENSP00000413369.1:p.Arg195His
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471205
  ensembl transcript: ENST00000599748
  gene symbol: SPHK2
  hgvsc: ENST00000599748.1:c.290G>A
  hgvsp: ENSP00000471205.1:p.Arg97His
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000245222
  ensembl transcript: ENST00000245222
  gene symbol: SPHK2
  hgvsc: ENST00000245222.4:c.398G>A
  hgvsp: ENSP00000245222.3:p.Arg133His
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000341091
  ensembl transcript: ENST00000340932
  gene symbol: SPHK2
  hgvsc: ENST00000340932.3:c.290G>A
  hgvsp: ENSP00000341091.3:p.Arg97His
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471111
  ensembl transcript: ENST00000597434
  gene symbol: SPHK2
  hgvsc: ENST00000597434.1:c.290G>A
  hgvsp: ENSP00000471111.1:p.Arg97His
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000410044
  ensembl transcript: ENST00000426514
  gene symbol: SPHK2
  hgvsc: ENST00000426514.2:c.40-1443G>A
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469448
  ensembl transcript: ENST00000601704
  gene symbol: SPHK2
  hgvsc: ENST00000601704.1:c.290G>A
  hgvsp: ENSP00000469448.1:p.Arg97His
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471180
  ensembl transcript: ENST00000601712
  gene symbol: SPHK2
  hgvsc: ENST00000601712.1:c.290G>A
  hgvsp: ENSP00000471180.1:p.Arg97His
  variant of: http://identifiers.org/hgnc/18859
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3543
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3894
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11245
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10332
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg133His
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

19-49129514-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49129514
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49129514
    reference: chr 19
allele count: 15
allele frequency: 1.757839966249473e-4
allele num: 85332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000413369
  ensembl transcript: ENST00000443164
  gene symbol: SPHK2
  hgvsc: ENST00000443164.1:c.592C>T
  hgvsp: ENSP00000413369.1:p.Arg198Trp
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469448
  ensembl transcript: ENST00000601704
  gene symbol: SPHK2
  hgvsc: ENST00000601704.1:c.298C>T
  hgvsp: ENSP00000469448.1:p.Arg100Trp
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000598574
  gene symbol: SPHK2
  hgvsc: ENST00000598574.1:n.1229C>T
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471180
  ensembl transcript: ENST00000601712
  gene symbol: SPHK2
  hgvsc: ENST00000601712.1:c.298C>T
  hgvsp: ENSP00000471180.1:p.Arg100Trp
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000341091
  ensembl transcript: ENST00000340932
  gene symbol: SPHK2
  hgvsc: ENST00000340932.3:c.298C>T
  hgvsp: ENSP00000341091.3:p.Arg100Trp
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000410044
  ensembl transcript: ENST00000426514
  gene symbol: SPHK2
  hgvsc: ENST00000426514.2:c.40-1435C>T
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000470092
  ensembl transcript: ENST00000600537
  gene symbol: SPHK2
  hgvsc: ENST00000600537.1:c.229C>T
  hgvsp: ENSP00000470092.1:p.Arg77Trp
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471205
  ensembl transcript: ENST00000599748
  gene symbol: SPHK2
  hgvsc: ENST00000599748.1:c.298C>T
  hgvsp: ENSP00000471205.1:p.Arg100Trp
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000472983
  ensembl transcript: ENST00000599029
  gene symbol: SPHK2
  hgvsc: ENST00000599029.1:c.298C>T
  hgvsp: ENSP00000472983.1:p.Arg100Trp
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471111
  ensembl transcript: ENST00000597434
  gene symbol: SPHK2
  hgvsc: ENST00000597434.1:c.298C>T
  hgvsp: ENSP00000471111.1:p.Arg100Trp
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000245222
  ensembl transcript: ENST00000245222
  gene symbol: SPHK2
  hgvsc: ENST00000245222.4:c.406C>T
  hgvsp: ENSP00000245222.3:p.Arg136Trp
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063176
  ensembl transcript: ENST00000599033
  gene symbol: SPHK2
  hgvsc: ENST00000599033.1:n.574C>T
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469158
  ensembl transcript: ENST00000598088
  gene symbol: SPHK2
  hgvsc: ENST00000598088.1:c.406C>T
  hgvsp: ENSP00000469158.1:p.Arg136Trp
  variant of: http://identifiers.org/hgnc/18859
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10766
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11960
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18253
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 10755
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg136Trp
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

19-49129515-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49129515
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49129515
    reference: chr 19
allele count: 1
allele frequency: 1.185733257446405e-5
allele num: 84336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000469158
  ensembl transcript: ENST00000598088
  gene symbol: SPHK2
  hgvsc: ENST00000598088.1:c.407G>A
  hgvsp: ENSP00000469158.1:p.Arg136Gln
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000245222
  ensembl transcript: ENST00000245222
  gene symbol: SPHK2
  hgvsc: ENST00000245222.4:c.407G>A
  hgvsp: ENSP00000245222.3:p.Arg136Gln
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000341091
  ensembl transcript: ENST00000340932
  gene symbol: SPHK2
  hgvsc: ENST00000340932.3:c.299G>A
  hgvsp: ENSP00000341091.3:p.Arg100Gln
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000410044
  ensembl transcript: ENST00000426514
  gene symbol: SPHK2
  hgvsc: ENST00000426514.2:c.40-1434G>A
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471205
  ensembl transcript: ENST00000599748
  gene symbol: SPHK2
  hgvsc: ENST00000599748.1:c.299G>A
  hgvsp: ENSP00000471205.1:p.Arg100Gln
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000471180
  ensembl transcript: ENST00000601712
  gene symbol: SPHK2
  hgvsc: ENST00000601712.1:c.299G>A
  hgvsp: ENSP00000471180.1:p.Arg100Gln
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000472983
  ensembl transcript: ENST00000599029
  gene symbol: SPHK2
  hgvsc: ENST00000599029.1:c.299G>A
  hgvsp: ENSP00000472983.1:p.Arg100Gln
  variant of: http://identifiers.org/hgnc/18859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000063176
  ensembl protein: ENSP00000470092
  ensembl transcript: ENST00000600537
  gene symbol: SPHK2
  hgvsc: ENST00000600537.1:c.230G>A
  hgvsp: ENSP00000470092.1:p.Arg77Gln
  variant of: http://identifiers.org/hgnc/18859
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
hgvs: p.Arg136Gln
num of homozygotes: 0
reference allele: G

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1138
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23634
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 266
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3816
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.77e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.544e-1

DP
type: SiteQuality
SIO_000300: 5.35715e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3916
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1294
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3218
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.406469760900141e-4
allele num: 7110
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.76e-2

VQSLOD
type: SiteQuality
SIO_000300: -7.747000000000001e-1

QD
type: SiteQuality
SIO_000300: 8.16e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.074e0

DP
type: SiteQuality
SIO_000300: 5.94126e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.77e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.093e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.55e-1

Latino
type: Population
allele count: 7
allele frequency: 1.601097895699908e-3
allele num: 4372
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 1.812688821752266e-3
allele num: 3310
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 1.05736188210415e-3
allele num: 7566
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 9.375e-3
allele num: 320
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.39e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

VQSLOD
type: SiteQuality
SIO_000300: 5.28e0

DP
type: SiteQuality
SIO_000300: 6.28889e5

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

QD
type: SiteQuality
SIO_000300: 1.421e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.33e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4580
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1472
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7852
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.4e0

MQRankSum
type: SiteQuality
SIO_000300: 1.78e-1

QD
type: SiteQuality
SIO_000300: 1.372e1

VQSLOD
type: SiteQuality
SIO_000300: 2.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.57e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-1

DP
type: SiteQuality
SIO_000300: 6.54005e5

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4694
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32152
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1712
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.0206e1

QD
type: SiteQuality
SIO_000300: 7.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.34e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.96e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.032e-1

DP
type: SiteQuality
SIO_000300: 7.46217e5

ClippingRankSum
type: SiteQuality
SIO_000300: -4.91e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35940
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5188
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1992
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.05e-2

QD
type: SiteQuality
SIO_000300: 9.880000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: -3.06e-1

FS
type: SiteQuality
SIO_000300: 2.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.59e-1

DP
type: SiteQuality
SIO_000300: 8.20708e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.653e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.899999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

African
type: Population
allele count: 1
allele frequency: 2.233139794551139e-4
allele num: 4478
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39164
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2242
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.824e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.02e-2

DP
type: SiteQuality
SIO_000300: 8.79085e5

ClippingRankSum
type: SiteQuality
SIO_000300: -7.2e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.724e0

FS
type: SiteQuality
SIO_000300: 1.485e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.02e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.58e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12418
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6112
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7644
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 4.053506282934738e-4
allele num: 4934
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.2e-3

QD
type: SiteQuality
SIO_000300: 1.041e1

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

MQRankSum
type: SiteQuality
SIO_000300: -1.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

DP
type: SiteQuality
SIO_000300: 9.57038e5

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.78e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4992
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2646
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7674
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6146
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.287178079685284e-5
allele num: 43722
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

FS
type: SiteQuality
SIO_000300: 2.381e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.51e-1

QD
type: SiteQuality
SIO_000300: 1.213e1

VQSLOD
type: SiteQuality
SIO_000300: 9.9e-1

DP
type: SiteQuality
SIO_000300: 9.60845e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2742
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5134
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 542
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7916
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.195e0

FS
type: SiteQuality
SIO_000300: 2.348e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.070000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.699999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.036e0

DP
type: SiteQuality
SIO_000300: 9.75641e5

QD
type: SiteQuality
SIO_000300: 4.29e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2728
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12750
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7920
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 546
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.589319771137953e-4
allele num: 6292
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.89e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.500000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.859e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.78471e5

QD
type: SiteQuality
SIO_000300: 2.9e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5206
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12830
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45068
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8018
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.64e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.02e0

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.800000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.01e-1

QD
type: SiteQuality
SIO_000300: 1.749e1

DP
type: SiteQuality
SIO_000300: 9.81853e5

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.979341150195422e-5
allele num: 42984
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6030
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12640
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.06e-1

FS
type: SiteQuality
SIO_000300: 1.0745e1

VQSLOD
type: SiteQuality
SIO_000300: -2.007e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.576e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.999999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-2

QD
type: SiteQuality
SIO_000300: 5.91e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.19e-1

DP
type: SiteQuality
SIO_000300: 9.20411e5

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.326338807983995e-5
allele num: 42986
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4952
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 7.733952049497294e-4
allele num: 2586
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7536
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.299999999999999e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.33e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.33e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.142e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.56e-1

DP
type: SiteQuality
SIO_000300: 9.19746e5

QD
type: SiteQuality
SIO_000300: 8.48e0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43110
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12676
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.660026560424967e-4
allele num: 6024
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4994
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.38e-1

DP
type: SiteQuality
SIO_000300: 9.20269e5

FS
type: SiteQuality
SIO_000300: 2.475e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.13e-2

QD
type: SiteQuality
SIO_000300: 7.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.104e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6024
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12676
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2596
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.13e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.104e0

QD
type: SiteQuality
SIO_000300: 7.0e0

FS
type: SiteQuality
SIO_000300: 2.475e0

VQSLOD
type: SiteQuality
SIO_000300: -6.38e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.20269e5

MQRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.27e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12692
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5012
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2610
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 9.20174e5

VQSLOD
type: SiteQuality
SIO_000300: -2.444e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

FS
type: SiteQuality
SIO_000300: 5.035e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.43e0

MQ
type: SiteQuality
SIO_000300: 5.896e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.1e-3

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2446
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.733734281027884e-4
allele num: 7316
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 2.090301003344482e-4
allele num: 4784
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12450
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.88225e5

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.900000000000001e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.01e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.195e0

QD
type: SiteQuality
SIO_000300: 6.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.94e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.23e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 510
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5812
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.002560819462228e-5
allele num: 12496
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7328
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.399e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.96e-1

DP
type: SiteQuality
SIO_000300: 8.85286e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.4e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4748
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41124
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5734
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.026e0

FS
type: SiteQuality
SIO_000300: 1.034e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.599999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e0

VQSLOD
type: SiteQuality
SIO_000300: 3.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

QD
type: SiteQuality
SIO_000300: 9.449999999999999e0

DP
type: SiteQuality
SIO_000300: 8.70024e5

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7164
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 4.829362524146813e-4
allele num: 12424
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 496
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5728
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2474
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.15e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

FS
type: SiteQuality
SIO_000300: 7.063e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.193e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.51e-1

DP
type: SiteQuality
SIO_000300: 8.70946e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.89e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5728
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.860031104199067e-5
allele num: 41152
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.016129032258064e-3
allele num: 496
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.395868230039084e-4
allele num: 7164
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 4.024468770122344e-4
allele num: 12424
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.51e-1

FS
type: SiteQuality
SIO_000300: 7.063e0

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

DP
type: SiteQuality
SIO_000300: 8.70946e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.15e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

QD
type: SiteQuality
SIO_000300: 1.193e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5724
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12432
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2458
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7156
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4754
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.67966e5

BaseQRankSum
type: SiteQuality
SIO_000300: 5.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.599999999999999e-3

MQ
type: SiteQuality
SIO_000300: 5.922e1

VQSLOD
type: SiteQuality
SIO_000300: 5.14e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

QD
type: SiteQuality
SIO_000300: 1.333e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12356
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.460387757110521e-5
allele num: 40644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7066
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5646
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MQRankSum
type: SiteQuality
SIO_000300: 1.63e0

VQSLOD
type: SiteQuality
SIO_000300: -1.992e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.2e-2

FS
type: SiteQuality
SIO_000300: 5.457e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.7e-3

DP
type: SiteQuality
SIO_000300: 8.61882e5

BaseQRankSum
type: SiteQuality
SIO_000300: -4.73e-1

QD
type: SiteQuality
SIO_000300: 2.035e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4676
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 7.440845280023811e-5
allele num: 40318
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5628
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.216e0

DP
type: SiteQuality
SIO_000300: 8.54487e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.83e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -5.279e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.8e-3

QD
type: SiteQuality
SIO_000300: 7.75e0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.530620508148598e-5
allele num: 39516
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2342
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12228
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.093e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.306e0

DP
type: SiteQuality
SIO_000300: 8.38322e5

QD
type: SiteQuality
SIO_000300: 7.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.369e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38962
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12108
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.46756677428823e-4
allele num: 6814
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.23e-1

DP
type: SiteQuality
SIO_000300: 8.31183e5

VQSLOD
type: SiteQuality
SIO_000300: -2.168e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.09e-2

MQ
type: SiteQuality
SIO_000300: 5.89e1

QD
type: SiteQuality
SIO_000300: 2.628e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6688
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38334
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12008
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2236
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5448
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.18e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.006e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.043e0

FS
type: SiteQuality
SIO_000300: 1.015e0

VQSLOD
type: SiteQuality
SIO_000300: -3.612e0

QD
type: SiteQuality
SIO_000300: 3.019e1

DP
type: SiteQuality
SIO_000300: 8.24727e5

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11924
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2188
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4448
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5342
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 460
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.179999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

DP
type: SiteQuality
SIO_000300: 8.06321e5

QD
type: SiteQuality
SIO_000300: 1.129e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.07e-2

FS
type: SiteQuality
SIO_000300: 2.077e0

VQSLOD
type: SiteQuality
SIO_000300: 7.58e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.37e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4228
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.803319129849742e-5
allele num: 35672
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6250
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5070
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2030
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.95e-1

DP
type: SiteQuality
SIO_000300: 7.7279e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.19e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.068e0

VQSLOD
type: SiteQuality
SIO_000300: -2.624e-1

QD
type: SiteQuality
SIO_000300: 1.585e1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4906
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 434
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e0

QD
type: SiteQuality
SIO_000300: 9.66e0

MQRankSum
type: SiteQuality
SIO_000300: -3.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.32e-2

DP
type: SiteQuality
SIO_000300: 7.54892e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.18e0

VQSLOD
type: SiteQuality
SIO_000300: 5.29e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34200
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5966
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1900
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4050
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e-1

FS
type: SiteQuality
SIO_000300: 1.675e0

DP
type: SiteQuality
SIO_000300: 7.52073e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.61e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.39e-2

QD
type: SiteQuality
SIO_000300: 1.17e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4880
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4050
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34200
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.52073e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.39e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.61e0

FS
type: SiteQuality
SIO_000300: 1.675e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.17e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1856
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.97548202808855e-5
allele num: 33608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4784
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5838
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.31e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.773e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.7e-1

QD
type: SiteQuality
SIO_000300: 4.61e0

MQRankSum
type: SiteQuality
SIO_000300: 9.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.96e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.015e0

DP
type: SiteQuality
SIO_000300: 7.45769e5

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5790
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33300
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.288e0

FS
type: SiteQuality
SIO_000300: 6.593e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.77e-1

DP
type: SiteQuality
SIO_000300: 7.40708e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.29e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

MQ
type: SiteQuality
SIO_000300: 5.373e1

QD
type: SiteQuality
SIO_000300: 3.183e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31540
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3714
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4478
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-2

DP
type: SiteQuality
SIO_000300: 7.2653e5

QD
type: SiteQuality
SIO_000300: 1.161e1

FS
type: SiteQuality
SIO_000300: 8.506e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 29638
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 5122
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10886
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.092e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e-1

QD
type: SiteQuality
SIO_000300: 8.52e0

MQ
type: SiteQuality
SIO_000300: 5.569e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.59e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

FS
type: SiteQuality
SIO_000300: 1.273e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

DP
type: SiteQuality
SIO_000300: 7.02585e5

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3464
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 372
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5038
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4208
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.4e-1

DP
type: SiteQuality
SIO_000300: 6.92234e5

VQSLOD
type: SiteQuality
SIO_000300: 7.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.55e-2

FS
type: SiteQuality
SIO_000300: 2.888e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.041e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 364
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4108
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10714
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 4922
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3370
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.84e-1

QD
type: SiteQuality
SIO_000300: 1.128e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.45e-1

FS
type: SiteQuality
SIO_000300: 1.523e0

MQRankSum
type: SiteQuality
SIO_000300: -1.413e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

VQSLOD
type: SiteQuality
SIO_000300: -3.059e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.63e-2

DP
type: SiteQuality
SIO_000300: 6.775e5

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3528
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 4158
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 326
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10166
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2786
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.56e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -4.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.09e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 1.052e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.517e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.12512e5

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3422
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2672
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10070
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1092
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4006
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.22e-2

FS
type: SiteQuality
SIO_000300: 1.702e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.54e-1

DP
type: SiteQuality
SIO_000300: 6.02562e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.244e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 6.21e0

GenotypeDepth
all individuals: 12
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variant carriers: 12

GenotypeDepth
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variant carriers: 57

GenotypeDepth
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bin: 1.75e1
variant carriers: 49

GenotypeDepth
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variant carriers: 104

GenotypeDepth
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bin: 3.25e1
variant carriers: 110

GenotypeDepth
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variant carriers: 198

GenotypeDepth
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variant carriers: 44

GenotypeDepth
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variant carriers: 2

GenotypeQuality
all individuals: 32
bin: 8.75e1
variant carriers: 4

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1362
bin: 2.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 2

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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variant carriers: 8

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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variant carriers: 1284

GenotypeQuality
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bin: 2.25e1
variant carriers: 2

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 415
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variant carriers: 1

GenotypeQuality
all individuals: 682
bin: 7.25e1
variant carriers: 2

Latino
type: Population
allele count: 860
allele frequency: 7.63765541740675e-2
allele num: 11260
num of homozygotes: 33

East Asian
type: Population
allele count: 102
allele frequency: 1.224195871339414e-2
allele num: 8332
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 207
allele frequency: 3.39477827341905e-3
allele num: 60976
num of homozygotes: 6

African
type: Population
allele count: 8
allele frequency: 9.029345372460496e-4
allele num: 8860
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 141
allele frequency: 2.265424164524421e-2
allele num: 6224
num of homozygotes: 0

South Asian
type: Population
allele count: 16
allele frequency: 1.086218601493551e-3
allele num: 14730
num of homozygotes: 0

Other
type: Population
allele count: 13
allele frequency: 1.608910891089109e-2
allele num: 808
num of homozygotes: 1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.33e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.209e0

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

DP
type: SiteQuality
SIO_000300: 1.327712e6

QD
type: SiteQuality
SIO_000300: 1.448e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 297
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GenotypeQuality
all individuals: 147
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11124
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8282
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8188
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.183071930773391e-4
allele num: 59168
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.336898395721925e-3
allele num: 748
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5900
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

QD
type: SiteQuality
SIO_000300: 1.086e1

VQSLOD
type: SiteQuality
SIO_000300: 1.52e-1

DP
type: SiteQuality
SIO_000300: 1.278304e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e-1

FS
type: SiteQuality
SIO_000300: 8.211e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8212
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.173708920187793e-4
allele num: 8520
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
type: Population
allele count: 4
allele frequency: 6.5359477124183e-4
allele num: 6120
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 2.00407495240322e-4
allele num: 59878
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.849814762040468e-4
allele num: 14036
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Other
type: Population
allele count: 1
allele frequency: 1.305483028720627e-3
allele num: 766
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VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.13e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

FS
type: SiteQuality
SIO_000300: 3.403e0

DP
type: SiteQuality
SIO_000300: 1.289036e6

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.23e-1

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

Other
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South Asian
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allele frequency: 1.42836737608913e-4
allele num: 14002
num of homozygotes: 0

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

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

East Asian
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allele frequency: 0.0e0
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MQRankSum
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ClippingRankSum
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QD
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MQ
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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FS
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DP
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8214
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.670787943594199e-5
allele num: 59852
num of homozygotes: 0

South Asian
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allele frequency: 7.182876023559833e-5
allele num: 13922
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African
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allele count: 0
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Latino
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Other
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FS
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ClippingRankSum
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MQ
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.67089961235129e-5
allele num: 59848
num of homozygotes: 0

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

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

East Asian
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VQSLOD
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MQRankSum
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FS
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ClippingRankSum
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DP
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ReadPosRankSum
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BaseQRankSum
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MQ
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SIO_000300: 5.903e1

QD
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 1
allele frequency: 1.202212070209185e-4
allele num: 8318
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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South Asian
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BaseQRankSum
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DP
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ReadPosRankSum
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VQSLOD
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FS
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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QD
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MQ
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GenotypeDepth
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variant carriers: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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South Asian
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East Asian
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Latino
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European (Non-Finnish)
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MQ
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ClippingRankSum
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VQSLOD
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FS
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 59318
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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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FS
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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DP
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SIO_000300: 1.271416e6

QD
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MQ
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GenotypeDepth
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variant carriers: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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num of homozygotes: 0

Other
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South Asian
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allele frequency: 7.664009809932556e-5
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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VQSLOD
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DP
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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MQ
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FS
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InbreedingCoeff
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QD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

Latino
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allele frequency: 9.79431929480901e-5
allele num: 10210
num of homozygotes: 0

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

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

VQSLOD
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SIO_000300: 8.64e-1

MQRankSum
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FS
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MQ
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QD
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DP
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BaseQRankSum
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SIO_000300: 2.04e-1

ClippingRankSum
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SIO_000300: -7.63e-1

InbreedingCoeff
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SIO_000300: 8.9e-3

ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.708648568461652e-5
allele num: 53928
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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num of homozygotes: 0

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

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

Latino
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num of homozygotes: 0

ClippingRankSum
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SIO_000300: 4.88e-1

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

Latino
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num of homozygotes: 0

South Asian
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European (Non-Finnish)
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allele frequency: 1.854324284230826e-5
allele num: 53928
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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Latino
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Other
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East Asian
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allele frequency: 1.492942453854506e-3
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European (Non-Finnish)
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num of homozygotes: 0

South Asian
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QD
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MQ
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MQRankSum
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ReadPosRankSum
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VQSLOD
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FS
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DP
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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GenotypeDepth
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variant carriers: 3

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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Latino
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allele frequency: 9.970089730807577e-5
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num of homozygotes: 0

European (Finnish)
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European (Non-Finnish)
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South Asian
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East Asian
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BaseQRankSum
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FS
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MQRankSum
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ReadPosRankSum
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MQ
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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QD
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DP
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GenotypeDepth
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variant carriers: 1

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

European (Non-Finnish)
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allele frequency: 1.89436993256043e-5
allele num: 52788
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Other
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African
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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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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 52018
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South Asian
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ReadPosRankSum
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MQRankSum
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QD
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VQSLOD
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FS
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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DP
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 7074
num of homozygotes: 0

European (Non-Finnish)
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allele count: 11
allele frequency: 2.142245072836333e-4
allele num: 51348
num of homozygotes: 0

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

South Asian
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allele frequency: 1.151719901719902e-3
allele num: 13024
num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 1
allele frequency: 1.025430680885972e-4
allele num: 9752
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 51254
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African
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allele count: 0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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VQSLOD
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MQ
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SIO_000300: 5.883e1

MQRankSum
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SIO_000300: 7.31e-1

ClippingRankSum
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InbreedingCoeff
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SIO_000300: -8.1e-3

QD
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BaseQRankSum
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FS
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SIO_000300: 0.0e0

DP
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 305

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 4.220238995613371e-2
allele num: 13222
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African
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Other
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Latino
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allele frequency: 2.556173984745413e-2
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European (Finnish)
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allele count: 500
allele frequency: 1.015434606011373e-1
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East Asian
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allele frequency: 9.91501416430595e-4
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European (Non-Finnish)
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allele count: 4046
allele frequency: 7.910996402315032e-2
allele num: 51144
num of homozygotes: 128

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

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

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

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

South Asian
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European (Finnish)
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Other
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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FS
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DP
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MQ
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 13126
num of homozygotes: 0

East Asian
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Latino
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European (Finnish)
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Other
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African
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European (Non-Finnish)
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QD
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ClippingRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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MQRankSum
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FS
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ReadPosRankSum
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DP
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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South Asian
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European (Finnish)
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East Asian
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Latino
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Other
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ReadPosRankSum
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InbreedingCoeff
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FS
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DP
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MQRankSum
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MQ
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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European (Non-Finnish)
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African
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East Asian
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Other
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DP
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BaseQRankSum
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QD
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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MQ
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FS
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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South Asian
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European (Non-Finnish)
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Other
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European (Finnish)
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Latino
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FS
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MQ
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InbreedingCoeff
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QD
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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MQRankSum
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DP
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11258
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18649
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1072
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 1501
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5498
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 4
allele frequency: 3.047851264858275e-4
allele num: 13124
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.225292601512655e-5
allele num: 47334
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.547508511296812e-4
allele num: 6462
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.110864252388358e-4
allele num: 9002
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5858
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4276
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.902e0

QD
type: SiteQuality
SIO_000300: 9.81e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.186e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.06e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

DP
type: SiteQuality
SIO_000300: 8.43303e5

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

GenotypeDepth
all individuals: 3232
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4073
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 25
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4209
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 36
bin: 9.75e1
variant carriers: 16

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

GenotypeQuality
all individuals: 1898
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6492
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1135
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18713
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4397
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1186
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 779
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10692
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1540
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1593
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 2
allele frequency: 3.367003367003367e-3
allele num: 594
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13186
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4168
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5680
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6264
num of homozygotes: 0

Latino
type: Population
allele count: 12
allele frequency: 1.348617666891436e-3
allele num: 8898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.148596966181084e-5
allele num: 46542
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e0

FS
type: SiteQuality
SIO_000300: 1.2071e1

DP
type: SiteQuality
SIO_000300: 8.32508e5

VQSLOD
type: SiteQuality
SIO_000300: -1.348e0

QD
type: SiteQuality
SIO_000300: 1.122e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.13e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1