17-48440320-A-ATTTATTTAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48440320
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48440329
    reference: chr 17
allele count: 12
allele frequency: 1.90053848590434e-3
allele num: 6314
alternate allele: ATTTATTTAT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000015532
  ensembl protein: ENSP00000426501
  ensembl transcript: ENST00000507602
  gene symbol: XYLT2
  variant of: http://identifiers.org/hgnc/15517
canonical: false
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  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
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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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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
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  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 495
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  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 222
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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
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 232
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genotype quality: GenotypeQuality
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  variant carriers: 3
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 282
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 425
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 89
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.75e1
  variant carriers: 6
num of homozygotes: 1
population: South Asian
  type: Population
  allele count: 8
  allele frequency: 1.949317738791423e-3
  allele num: 4104
  num of homozygotes: 1
population: Latino
  type: Population
  allele count: 1
  allele frequency: 1.724137931034483e-2
  allele num: 58
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 82
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

17-48440369-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48440369
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48440369
    reference: chr 17
allele count: 2
allele frequency: 2.065262288310616e-4
allele num: 9684
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000015532
  ensembl protein: ENSP00000426501
  ensembl transcript: ENST00000507602
  gene symbol: XYLT2
  hgvsc: ENST00000507602.1:c.1971G>C
  hgvsp: ENST00000507602.1:c.1971G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15517
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  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
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genotype depth: GenotypeDepth
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  variant carriers: 1
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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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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  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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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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  bin: 7.75e1
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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
  all individuals: 3205
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  variant carriers: 0
hgvs: p.Leu657Leu
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 132
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 184
  num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

17-48440388-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48440388
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48440388
    reference: chr 17
allele count: 1
allele frequency: 1.039068994181214e-4
allele num: 9624
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000015532
  ensembl protein: ENSP00000426501
  ensembl transcript: ENST00000507602
  gene symbol: XYLT2
  hgvsc: ENST00000507602.1:c.1990C>G
  hgvsp: ENSP00000426501.1:p.Gln664Glu
  variant of: http://identifiers.org/hgnc/15517
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 2.75e1
  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
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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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  bin: 9.75e1
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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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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  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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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: 17
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  variant carriers: 0
hgvs: p.Gln664Glu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 84
  num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum

17-48440401-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48440401
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48440401
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 9428
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000015532
  ensembl protein: ENSP00000426501
  ensembl transcript: ENST00000507602
  gene symbol: XYLT2
  hgvsc: ENST00000507602.1:c.2003C>T
  hgvsp: ENSP00000426501.1:p.Pro668Leu
  variant of: http://identifiers.org/hgnc/15517
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
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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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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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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: 3136
  bin: 6.25e1
  variant carriers: 1
hgvs: p.Pro668Leu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 80
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 132
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-48440420-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48440420
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48440420
    reference: chr 17
allele count: 1
allele frequency: 1.115075825156111e-4
allele num: 8968
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000015532
  ensembl protein: ENSP00000426501
  ensembl transcript: ENST00000507602
  gene symbol: XYLT2
  hgvsc: ENST00000507602.1:c.2022G>A
  hgvsp: ENST00000507602.1:c.2022G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15517
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
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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: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  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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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 567
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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
  all individuals: 141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2325
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala674Ala
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 176
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 132
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

17-48440443-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48440443
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48440443
    reference: chr 17
allele count: 1
allele frequency: 1.280737704918033e-4
allele num: 7808
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000015532
  ensembl protein: ENSP00000426501
  ensembl transcript: ENST00000507602
  gene symbol: XYLT2
  hgvsc: ENST00000507602.1:c.*14C>G
  variant of: http://identifiers.org/hgnc/15517
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1069
  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: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 3.25e1
  variant carriers: 1
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: 185
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 1585
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 92
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genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
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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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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 132
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 96
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-48440467-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48440467
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48440468
    reference: chr 17
allele count: 77
allele frequency: 1.145833333333333e-1
allele num: 672
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000015532
  ensembl protein: ENSP00000426501
  ensembl transcript: ENST00000507602
  gene symbol: XYLT2
  hgvsc: ENST00000507602.1:c.*53dupA
  variant of: http://identifiers.org/hgnc/15517
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 1.25e1
  variant carriers: 81
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
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  variant carriers: 27
genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  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: 14
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genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 7.5e0
  variant carriers: 200
genotype depth: GenotypeDepth
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  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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  bin: 8.75e1
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 31
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  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3713
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 166
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genotype quality: GenotypeQuality
  all individuals: 71
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genotype quality: GenotypeQuality
  all individuals: 150
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genotype quality: GenotypeQuality
  all individuals: 9
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genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 80
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genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 8
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genotype quality: GenotypeQuality
  all individuals: 12
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genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 16
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genotype quality: GenotypeQuality
  all individuals: 39
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 125
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genotype quality: GenotypeQuality
  all individuals: 100
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genotype quality: GenotypeQuality
  all individuals: 76
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num of homozygotes: 0
population: African
  type: Population
  allele count: 3
  allele frequency: 8.823529411764706e-2
  allele num: 34
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 35
  allele frequency: 1.114649681528662e-1
  allele num: 314
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 5
  allele frequency: 8.064516129032258e-2
  allele num: 62
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

17-48440467-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48440467
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48440466
    reference: chr 17
allele count: 220
allele frequency: 3.273809523809524e-1
allele num: 672
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000015532
  ensembl protein: ENSP00000426501
  ensembl transcript: ENST00000507602
  gene symbol: XYLT2
  hgvsc: ENST00000507602.1:c.*53delA
  variant of: http://identifiers.org/hgnc/15517
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 1.25e1
  variant carriers: 213
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2770
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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
  all individuals: 47
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genotype quality: GenotypeQuality
  all individuals: 31
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genotype quality: GenotypeQuality
  all individuals: 150
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  variant carriers: 106
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 94
  allele frequency: 2.993630573248408e-1
  allele num: 314
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 23
  allele frequency: 3.709677419354839e-1
  allele num: 62
  num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: TA
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

17-48440467-TAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48440467
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48440465
    reference: chr 17
allele count: 7
allele frequency: 1.041666666666667e-2
allele num: 672
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000015532
  ensembl protein: ENSP00000426501
  ensembl transcript: ENST00000507602
  gene symbol: XYLT2
  hgvsc: ENST00000507602.1:c.*52_*53delAA
  variant of: http://identifiers.org/hgnc/15517
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 1.25e1
  variant carriers: 8
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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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 34
  num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: TAA
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/17-48440473-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48440473
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48440473
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 3322
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000015532
  ensembl protein: ENSP00000426501
  ensembl transcript: ENST00000507602
  gene symbol: XYLT2
  hgvsc: ENST00000507602.1:c.*44A>C
  variant of: http://identifiers.org/hgnc/15517
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  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: 2799
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  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: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  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: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2105
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 554
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
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genotype quality: GenotypeQuality
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1966
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1968
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 104
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 108
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

17-48445404-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445404
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445403
    reference: chr 17
allele count: 1
allele frequency: 8.348639171814994e-6
allele num: 119780
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.*48delG
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.*48delG
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*285delG
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1943delG
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.*48delG
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.*48delG
  variant of: http://identifiers.org/hgnc/14483
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5831
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18220
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
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genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 31844
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 997
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 466
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 2224
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 110
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genotype quality: GenotypeQuality
  all individuals: 8434
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genotype quality: GenotypeQuality
  all individuals: 2379
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genotype quality: GenotypeQuality
  all individuals: 1251
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: TC
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum

17-48445415-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445415
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445415
    reference: chr 17
allele count: 1
allele frequency: 8.342649291709075e-6
allele num: 119866
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*275G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.*38G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.*38G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.*38G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1933G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.*38G>A
  variant of: http://identifiers.org/hgnc/14483
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12013
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14964
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.75e1
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genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 4.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2116
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 73
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genotype depth: GenotypeDepth
  all individuals: 42
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genotype quality: GenotypeQuality
  all individuals: 2238
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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: 1115
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genotype quality: GenotypeQuality
  all individuals: 970
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-48445422-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445422
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445422
    reference: chr 17
allele count: 1
allele frequency: 8.327920185212944e-6
allele num: 120078
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.*31G>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.*31G>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.*31G>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*268G>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.*31G>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1926G>T
  variant of: http://identifiers.org/hgnc/14483
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
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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 depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
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genotype depth: GenotypeDepth
  all individuals: 19654
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2148
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39408
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2183
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8542
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

17-48445434-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445434
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445434
    reference: chr 17
allele count: 2
allele frequency: 1.659503144758459e-5
allele num: 120518
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.*19G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1914G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.*19G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.*19G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.*19G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*256G>A
  variant of: http://identifiers.org/hgnc/14483
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4262
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12451
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2209
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2246
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

17-48445435-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445435
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445435
    reference: chr 17
allele count: 4
allele frequency: 3.315210184325686e-5
allele num: 120656
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.*18C>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.*18C>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*255C>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.*18C>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.*18C>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1913C>T
  variant of: http://identifiers.org/hgnc/14483
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12488
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2207
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD

17-48445440-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445440
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445440
    reference: chr 17
allele count: 1
allele frequency: 8.274583788435442e-6
allele num: 120852
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.*13G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.*13G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.*13G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.*13G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1908G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*250G>A
  variant of: http://identifiers.org/hgnc/14483
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12576
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17019
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8870
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-48445451-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445451
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445451
    reference: chr 17
allele count: 592
allele frequency: 4.886827029436529e-3
allele num: 121142
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.*2G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.*2G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1897G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*239G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.*2G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.*2G>A
  variant of: http://identifiers.org/hgnc/14483
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4243
  bin: 3.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 21076
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12608
  bin: 3.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.75e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.25e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 4.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 4.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.25e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 16828
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.75e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8893
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2236
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42108
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 2
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/17-48445452-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445452
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445452
    reference: chr 17
allele count: 2
allele frequency: 1.650519088253256e-5
allele num: 121174
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.*1T>G
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.*1T>G
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.*1T>G
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.*1T>G
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*238T>G
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1896T>G
  variant of: http://identifiers.org/hgnc/14483
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21256
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42571
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2131
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

17-48445459-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445459
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445459
    reference: chr 17
allele count: 10
allele frequency: 8.246470510621453e-5
allele num: 121264
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.441G>A
  hgvsp: ENSP00000225969.4:p.Met147Ile
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*231G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.403G>A
  hgvsp: ENSP00000424321.1:p.Met135Ile
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.276G>A
  hgvsp: ENSP00000421865.1:p.Met92Ile
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1889G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.276G>A
  hgvsp: ENSP00000426037.1:p.Met92Ile
  variant of: http://identifiers.org/hgnc/14483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16828
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 21329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4317
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12836
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9020
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42694
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Met147Ile
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

17-48445461-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445461
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445461
    reference: chr 17
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1887A>G
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*229A>G
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.401A>G
  hgvsp: ENSP00000424321.1:p.Met135Val
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.439A>G
  hgvsp: ENSP00000225969.4:p.Met147Val
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.274A>G
  hgvsp: ENSP00000426037.1:p.Met92Val
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.274A>G
  hgvsp: ENSP00000421865.1:p.Met92Val
  variant of: http://identifiers.org/hgnc/14483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12847
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2263
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2131
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9032
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Met147Val
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

17-48445478-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445478
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445478
    reference: chr 17
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.257C>T
  hgvsp: ENSP00000421865.1:p.Thr86Ile
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.422C>T
  hgvsp: ENSP00000225969.4:p.Thr141Ile
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*212C>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.257C>T
  hgvsp: ENSP00000426037.1:p.Thr86Ile
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1870C>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.384C>T
  hgvsp: ENSP00000424321.1:p.Thr129Ile
  variant of: http://identifiers.org/hgnc/14483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21433
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2267
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2214
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr141Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

17-48445479-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445479
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445479
    reference: chr 17
allele count: 2
allele frequency: 1.64766361299677e-5
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1869A>G
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.383A>G
  hgvsp: ENSP00000424321.1:p.Thr129Ala
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*211A>G
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.256A>G
  hgvsp: ENSP00000426037.1:p.Thr86Ala
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.421A>G
  hgvsp: ENSP00000225969.4:p.Thr141Ala
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.256A>G
  hgvsp: ENSP00000421865.1:p.Thr86Ala
  variant of: http://identifiers.org/hgnc/14483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21436
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16795
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42886
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr141Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: T
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

17-48445493-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445493
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445493
    reference: chr 17
allele count: 64
allele frequency: 5.272002372401067e-4
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1855C>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.242C>T
  hgvsp: ENSP00000421865.1:p.Ala81Val
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*197C>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.242C>T
  hgvsp: ENSP00000426037.1:p.Ala81Val
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.407C>T
  hgvsp: ENSP00000225969.4:p.Ala136Val
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.369C>T
  hgvsp: ENSP00000424321.1:p.Ala124Val
  variant of: http://identifiers.org/hgnc/14483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 16737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21452
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12891
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2204
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2260
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala136Val
num of homozygotes: 1
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ

17-48445494-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445494
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445494
    reference: chr 17
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*196G>C
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.406G>C
  hgvsp: ENSP00000225969.4:p.Ala136Pro
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.368G>C
  hgvsp: ENSP00000424321.1:p.Ala124Pro
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.241G>C
  hgvsp: ENSP00000421865.1:p.Ala81Pro
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.241G>C
  hgvsp: ENSP00000426037.1:p.Ala81Pro
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1854G>C
  variant of: http://identifiers.org/hgnc/14483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4327
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2261
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42914
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala136Pro
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

17-48445499-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445499
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445499
    reference: chr 17
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.236T>C
  hgvsp: ENSP00000426037.1:p.Val79Ala
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*191T>C
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.236T>C
  hgvsp: ENSP00000421865.1:p.Val79Ala
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1849T>C
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.363T>C
  hgvsp: ENSP00000424321.1:p.Val122Ala
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.401T>C
  hgvsp: ENSP00000225969.4:p.Val134Ala
  variant of: http://identifiers.org/hgnc/14483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12905
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4328
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21492
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9068
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2119
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2263
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val134Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD

17-48445503-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445503
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445503
    reference: chr 17
allele count: 18
allele frequency: 1.482701812191104e-4
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1845G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.232G>A
  hgvsp: ENSP00000426037.1:p.Val78Met
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*187G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.397G>A
  hgvsp: ENSP00000225969.4:p.Val133Met
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.232G>A
  hgvsp: ENSP00000421865.1:p.Val78Met
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.359G>A
  hgvsp: ENSP00000424321.1:p.Val121Met
  variant of: http://identifiers.org/hgnc/14483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2129
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9064
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2261
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val133Met
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

17-48445504-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445504
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445504
    reference: chr 17
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*186C>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.358C>T
  hgvsp: ENST00000508200.1:c.358C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.231C>T
  hgvsp: ENST00000511860.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.231C>T
  hgvsp: ENST00000507088.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1844C>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.396C>T
  hgvsp: ENST00000225969.4:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4328
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9064
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2207
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.His132His
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

17-48445505-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445505
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445505
    reference: chr 17
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1843A>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.230A>T
  hgvsp: ENSP00000426037.1:p.His77Leu
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.230A>T
  hgvsp: ENSP00000421865.1:p.His77Leu
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*185A>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.395A>T
  hgvsp: ENSP00000225969.4:p.His132Leu
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.357A>T
  hgvsp: ENSP00000424321.1:p.His120Leu
  variant of: http://identifiers.org/hgnc/14483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42940
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2205
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His132Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

17-48445507-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445507
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445507
    reference: chr 17
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.355C>T
  hgvsp: ENST00000508200.1:c.355C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1841C>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*183C>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.228C>T
  hgvsp: ENST00000507088.1:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.228C>T
  hgvsp: ENST00000511860.1:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.393C>T
  hgvsp: ENST00000225969.4:c.393C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4329
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42946
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9064
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val131Val
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

17-48445523-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445523
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445523
    reference: chr 17
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.339T>C
  hgvsp: ENSP00000424321.1:p.Leu114Pro
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1825T>C
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*167T>C
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.212T>C
  hgvsp: ENSP00000421865.1:p.Leu71Pro
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.212T>C
  hgvsp: ENSP00000426037.1:p.Leu71Pro
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.377T>C
  hgvsp: ENSP00000225969.4:p.Leu126Pro
  variant of: http://identifiers.org/hgnc/14483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21506
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4329
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16717
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2259
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2109
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2209
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu126Pro
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

17-48445524-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445524
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445524
    reference: chr 17
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.338C>T
  hgvsp: ENSP00000424321.1:p.Leu114Phe
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1824C>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.211C>T
  hgvsp: ENSP00000421865.1:p.Leu71Phe
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.211C>T
  hgvsp: ENSP00000426037.1:p.Leu71Phe
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.376C>T
  hgvsp: ENSP00000225969.4:p.Leu126Phe
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*166C>T
  variant of: http://identifiers.org/hgnc/14483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4329
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21506
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2209
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42946
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2109
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu126Phe
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

17-48445532-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445532
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445532
    reference: chr 17
allele count: 2
allele frequency: 1.647419317638919e-5
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.330G>A
  hgvsp: ENSP00000424321.1:p.Gly111Asp
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.368G>A
  hgvsp: ENSP00000225969.4:p.Gly123Asp
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*158G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1816G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.203G>A
  hgvsp: ENSP00000421865.1:p.Gly68Asp
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.203G>A
  hgvsp: ENSP00000426037.1:p.Gly68Asp
  variant of: http://identifiers.org/hgnc/14483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4328
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21507
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42952
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9062
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly123Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

17-48445537-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445537
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445537
    reference: chr 17
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1811C>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.198C>T
  hgvsp: ENST00000511860.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.325C>T
  hgvsp: ENST00000508200.1:c.325C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.363C>T
  hgvsp: ENST00000225969.4:c.363C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*153C>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.198C>T
  hgvsp: ENST00000507088.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4327
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro121Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

17-48445538-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445538
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445538
    reference: chr 17
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.197C>G
  hgvsp: ENSP00000421865.1:p.Pro66Arg
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.197C>G
  hgvsp: ENSP00000426037.1:p.Pro66Arg
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1810C>G
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.324C>G
  hgvsp: ENSP00000424321.1:p.Pro109Arg
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*152C>G
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.362C>G
  hgvsp: ENSP00000225969.4:p.Pro121Arg
  variant of: http://identifiers.org/hgnc/14483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4328
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21514
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16703
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2210
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42960
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9055
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2109
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro121Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-48445546-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445546
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445546
    reference: chr 17
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.316C>G
  hgvsp: ENST00000508200.1:c.316C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.189C>G
  hgvsp: ENST00000511860.1:c.189C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.354C>G
  hgvsp: ENST00000225969.4:c.354C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*144C>G
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.189C>G
  hgvsp: ENST00000507088.1:c.189C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1802C>G
  variant of: http://identifiers.org/hgnc/14483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4327
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21515
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2109
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9053
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42955
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr118Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

17-48445548-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445548
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445548
    reference: chr 17
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.314A>T
  hgvsp: ENSP00000424321.1:p.Thr106Ser
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.187A>T
  hgvsp: ENSP00000426037.1:p.Thr63Ser
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1800A>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.187A>T
  hgvsp: ENSP00000421865.1:p.Thr63Ser
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.352A>T
  hgvsp: ENSP00000225969.4:p.Thr118Ser
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*142A>T
  variant of: http://identifiers.org/hgnc/14483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21517
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42960
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9051
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr118Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

17-48445565-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445565
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445565
    reference: chr 17
allele count: 2
allele frequency: 1.647419317638919e-5
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.335A>G
  hgvsp: ENSP00000225969.4:p.Glu112Gly
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.297A>G
  hgvsp: ENSP00000424321.1:p.Glu100Gly
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1783A>G
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.170A>G
  hgvsp: ENSP00000426037.1:p.Glu57Gly
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.170A>G
  hgvsp: ENSP00000421865.1:p.Glu57Gly
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*125A>G
  variant of: http://identifiers.org/hgnc/14483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9057
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42940
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu112Gly
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

17-48445568-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445568
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445568
    reference: chr 17
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.167C>T
  hgvsp: ENSP00000421865.1:p.Thr56Met
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1780C>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.167C>T
  hgvsp: ENSP00000426037.1:p.Thr56Met
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.332C>T
  hgvsp: ENSP00000225969.4:p.Thr111Met
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.294C>T
  hgvsp: ENSP00000424321.1:p.Thr99Met
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*122C>T
  variant of: http://identifiers.org/hgnc/14483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16677
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4329
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21533
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2260
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2208
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9058
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr111Met
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

17-48445575-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445575
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445575
    reference: chr 17
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.325A>G
  hgvsp: ENSP00000225969.4:p.Arg109Gly
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1773A>G
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.160A>G
  hgvsp: ENSP00000426037.1:p.Arg54Gly
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.287A>G
  hgvsp: ENSP00000424321.1:p.Arg97Gly
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.160A>G
  hgvsp: ENSP00000421865.1:p.Arg54Gly
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*115A>G
  variant of: http://identifiers.org/hgnc/14483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9056
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2106
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 42940
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2262
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg109Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD

17-48445581-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445581
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445581
    reference: chr 17
allele count: 3
allele frequency: 2.471291826614165e-5
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*109C>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.319C>T
  hgvsp: ENSP00000225969.4:p.His107Tyr
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.154C>T
  hgvsp: ENSP00000421865.1:p.His52Tyr
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1767C>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.281C>T
  hgvsp: ENSP00000424321.1:p.His95Tyr
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.154C>T
  hgvsp: ENSP00000426037.1:p.His52Tyr
  variant of: http://identifiers.org/hgnc/14483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16657
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21540
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9051
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42938
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2212
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.His107Tyr
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP

17-48445587-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445587
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445587
    reference: chr 17
allele count: 2
allele frequency: 1.647582173160887e-5
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.313G>A
  hgvsp: ENSP00000225969.4:p.Val105Met
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.275G>A
  hgvsp: ENSP00000424321.1:p.Val93Met
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*103G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.148G>A
  hgvsp: ENSP00000421865.1:p.Val50Met
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.148G>A
  hgvsp: ENSP00000426037.1:p.Val50Met
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1761G>A
  variant of: http://identifiers.org/hgnc/14483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12915
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21545
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9051
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2210
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val105Met
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

17-48445588-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445588
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445588
    reference: chr 17
allele count: 6
allele frequency: 4.942583653228331e-5
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.312C>T
  hgvsp: ENST00000225969.4:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*102C>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1760C>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.274C>T
  hgvsp: ENST00000508200.1:c.274C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.147C>T
  hgvsp: ENST00000511860.1:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.147C>T
  hgvsp: ENST00000507088.1:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21545
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9049
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Tyr104Tyr
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

17-48445597-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445597
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445597
    reference: chr 17
allele count: 3
allele frequency: 2.471861971227527e-5
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.265G>A
  hgvsp: ENST00000508200.1:c.265G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1751G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.303G>A
  hgvsp: ENST00000225969.4:c.303G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.138G>A
  hgvsp: ENST00000511860.1:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*93G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.138G>A
  hgvsp: ENST00000507088.1:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16609
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21549
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42890
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2207
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys101Lys
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

17-48445601-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445601
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445601
    reference: chr 17
allele count: 22
allele frequency: 1.812878026270251e-4
allele num: 121354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*89C>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.299C>T
  hgvsp: ENSP00000225969.4:p.Thr100Ile
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.134C>T
  hgvsp: ENSP00000426037.1:p.Thr45Ile
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.134C>T
  hgvsp: ENSP00000421865.1:p.Thr45Ile
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.261C>T
  hgvsp: ENSP00000424321.1:p.Thr88Ile
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1747C>T
  variant of: http://identifiers.org/hgnc/14483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4326
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2253
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42871
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 9040
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr100Ile
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

17-48445602-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445602
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445602
    reference: chr 17
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.133A>G
  hgvsp: ENSP00000421865.1:p.Thr45Ala
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1746A>G
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.298A>G
  hgvsp: ENSP00000225969.4:p.Thr100Ala
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*88A>G
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.133A>G
  hgvsp: ENSP00000426037.1:p.Thr45Ala
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.260A>G
  hgvsp: ENSP00000424321.1:p.Thr88Ala
  variant of: http://identifiers.org/hgnc/14483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16571
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4327
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2094
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42869
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr100Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum

17-48445607-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445607
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445607
    reference: chr 17
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*83G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.128G>A
  hgvsp: ENSP00000426037.1:p.Arg43His
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1741G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.293G>A
  hgvsp: ENSP00000225969.4:p.Arg98His
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.128G>A
  hgvsp: ENSP00000421865.1:p.Arg43His
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.255G>A
  hgvsp: ENSP00000424321.1:p.Arg86His
  variant of: http://identifiers.org/hgnc/14483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12916
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2245
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42829
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2094
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg98His
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

17-48445608-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445608
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445608
    reference: chr 17
allele count: 2
allele frequency: 1.648532805802836e-5
allele num: 121320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.127C>T
  hgvsp: ENSP00000426037.1:p.Arg43Cys
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.254C>T
  hgvsp: ENSP00000424321.1:p.Arg86Cys
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.127C>T
  hgvsp: ENSP00000421865.1:p.Arg43Cys
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.292C>T
  hgvsp: ENSP00000225969.4:p.Arg98Cys
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1740C>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*82C>T
  variant of: http://identifiers.org/hgnc/14483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21544
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2095
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2240
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42844
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2199
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg98Cys
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

17-48445612-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445612
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445612
    reference: chr 17
allele count: 342
allele frequency: 2.819641856016885e-3
allele num: 121292
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.288A>C
  hgvsp: ENST00000225969.4:c.288A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.123A>C
  hgvsp: ENST00000507088.1:c.123A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.250A>C
  hgvsp: ENST00000508200.1:c.250A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*78A>C
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.123A>C
  hgvsp: ENST00000511860.1:c.123A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1736A>C
  variant of: http://identifiers.org/hgnc/14483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.75e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 12881
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 5.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 4.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 16433
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 4311
  bin: 3.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 4.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 21461
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2293
  bin: 9.75e1
  variant carriers: 333
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42707
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8991
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2168
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile96Ile
num of homozygotes: 7
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-48445615-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445615
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445615
    reference: chr 17
allele count: 1
allele frequency: 8.245926512302922e-6
allele num: 121272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*75G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1733G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.120G>A
  hgvsp: ENST00000507088.1:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.285G>A
  hgvsp: ENST00000225969.4:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.247G>A
  hgvsp: ENST00000508200.1:c.247G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.120G>A
  hgvsp: ENST00000511860.1:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21555
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16390
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12952
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4319
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42881
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2229
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9041
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2176
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly95Gly
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

17-48445616-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445616
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445616
    reference: chr 17
allele count: 9
allele frequency: 7.421823459559309e-5
allele num: 121264
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.246G>A
  hgvsp: ENSP00000424321.1:p.Gly83Glu
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.119G>A
  hgvsp: ENSP00000421865.1:p.Gly40Glu
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1732G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*74G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.284G>A
  hgvsp: ENSP00000225969.4:p.Gly95Glu
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.119G>A
  hgvsp: ENSP00000426037.1:p.Gly40Glu
  variant of: http://identifiers.org/hgnc/14483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4319
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42848
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2171
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2224
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly95Glu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

17-48445620-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445620
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445620
    reference: chr 17
allele count: 1
allele frequency: 8.248783304462591e-6
allele num: 121230
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.115G>C
  hgvsp: ENSP00000426037.1:p.Glu39Gln
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.242G>C
  hgvsp: ENSP00000424321.1:p.Glu82Gln
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*70G>C
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.115G>C
  hgvsp: ENSP00000421865.1:p.Glu39Gln
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.280G>C
  hgvsp: ENSP00000225969.4:p.Glu94Gln
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1728G>C
  variant of: http://identifiers.org/hgnc/14483
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4319
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42743
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2208
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1990
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu94Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-48445633-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445633
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445633
    reference: chr 17
allele count: 1
allele frequency: 8.264599414866361e-6
allele num: 120998
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.267G>T
  hgvsp: ENST00000225969.4:c.267G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*57G>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.102G>T
  hgvsp: ENST00000511860.1:c.102G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.102G>T
  hgvsp: ENST00000507088.1:c.102G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.229G>T
  hgvsp: ENST00000508200.1:c.229G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1715G>T
  variant of: http://identifiers.org/hgnc/14483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2091
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41756
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2139
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu89Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

17-48445639-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445639
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445639
    reference: chr 17
allele count: 1
allele frequency: 8.278008642241022e-6
allele num: 120802
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.96A>G
  hgvsp: ENST00000511860.1:c.96A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.223A>G
  hgvsp: ENST00000508200.1:c.223A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1709A>G
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.96A>G
  hgvsp: ENST00000507088.1:c.96A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*51A>G
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.261A>G
  hgvsp: ENST00000225969.4:c.261A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14883
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4286
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8676
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2074
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40404
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys87Lys
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-48445657-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445657
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445657
    reference: chr 17
allele count: 1
allele frequency: 8.388276544701125e-6
allele num: 119214
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.78G>T
  hgvsp: ENST00000507088.1:c.78G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.243G>T
  hgvsp: ENST00000225969.4:c.243G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1691G>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.205G>T
  hgvsp: ENST00000508200.1:c.205G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*33G>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.78G>T
  hgvsp: ENST00000511860.1:c.78G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8340
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3833
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5463
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1981
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5678
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 8.25e1
  variant carriers: 0
hgvs: c.243G>T
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP

17-48445657-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445657
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445657
    reference: chr 17
allele count: 1
allele frequency: 8.388276544701125e-6
allele num: 119214
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.243G>A
  hgvsp: ENST00000225969.4:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.78G>A
  hgvsp: ENST00000511860.1:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.78G>A
  hgvsp: ENST00000507088.1:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.205G>A
  hgvsp: ENST00000508200.1:c.205G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1691G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*33G>A
  variant of: http://identifiers.org/hgnc/14483
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3833
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5463
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8340
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3964
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1926
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 5.25e1
  variant carriers: 0
hgvs: c.243G>A
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

17-48445658-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445658
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445658
    reference: chr 17
allele count: 1
allele frequency: 8.607777988190129e-6
allele num: 116174
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.77T>C
  hgvsp: ENSP00000426037.1:p.Val26Ala
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.242T>C
  hgvsp: ENSP00000225969.4:p.Val81Ala
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1690T>C
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.204T>C
  hgvsp: ENSP00000424321.1:p.Val69Ala
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*32T>C
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.77T>C
  hgvsp: ENSP00000421865.1:p.Val26Ala
  variant of: http://identifiers.org/hgnc/14483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8721
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8382
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5508
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13181
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5145
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12651
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22043
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1977
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val81Ala
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

17-48445672-GACCTGGTC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445672
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445664
    reference: chr 17
allele count: 1
allele frequency: 1.028912439551394e-5
allele num: 97190
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: 3_prime_UTR_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  variant of: http://identifiers.org/hgnc/14483
canonical: false
consequence: splice acceptor
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6658
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11076
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2691
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1790
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2398
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6694
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3052
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3247
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10982
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4810
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2602
  bin: 2.5e0
  variant carriers: 0
hgvs: c.*16-6_*17delGACCAGGT
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: GACCTGGTC
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-48445674-CCTGGTCAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445674
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445666
    reference: chr 17
allele count: 44233
allele frequency: 4.128061072121846e-1
allele num: 107152
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*16-8_*16-1delCTGACCAG
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.188-8_188-1delCTGACCAG
  variant of: http://identifiers.org/hgnc/14483
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 221
genotype depth: GenotypeDepth
  all individuals: 5282
  bin: 7.5e0
  variant carriers: 4047
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 117
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 5.25e1
  variant carriers: 252
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 188
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 183
genotype depth: GenotypeDepth
  all individuals: 3172
  bin: 3.25e1
  variant carriers: 1292
genotype depth: GenotypeDepth
  all individuals: 6294
  bin: 2.75e1
  variant carriers: 2571
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 4.75e1
  variant carriers: 309
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 8745
  bin: 2.25e1
  variant carriers: 5628
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 2.5e0
  variant carriers: 117
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 138
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 115
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 9.75e1
  variant carriers: 306
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 3.75e1
  variant carriers: 696
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 124
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 4.25e1
  variant carriers: 420
genotype depth: GenotypeDepth
  all individuals: 14518
  bin: 1.75e1
  variant carriers: 10449
genotype depth: GenotypeDepth
  all individuals: 17642
  bin: 1.25e1
  variant carriers: 11715
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 7.75e1
  variant carriers: 396
genotype quality: GenotypeQuality
  all individuals: 2470
  bin: 6.75e1
  variant carriers: 645
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 8.25e1
  variant carriers: 362
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 2.5e0
  variant carriers: 109
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 5.75e1
  variant carriers: 1000
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 9.25e1
  variant carriers: 269
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 1.75e1
  variant carriers: 195
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 4.75e1
  variant carriers: 1257
genotype quality: GenotypeQuality
  all individuals: 2577
  bin: 2.75e1
  variant carriers: 626
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 7.5e0
  variant carriers: 103
genotype quality: GenotypeQuality
  all individuals: 4759
  bin: 2.25e1
  variant carriers: 385
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 1.25e1
  variant carriers: 142
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 4.25e1
  variant carriers: 1268
hgvs: c.*16-8_*16-1delCTGACCAG
num of homozygotes: 9843
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: CCTGGTCAG
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum

17-48445678-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445678
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445678
    reference: chr 17
allele count: 1
allele frequency: 2.607018092705563e-5
allele num: 38358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*16-4C>G
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.76-19C>G
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.188-4C>G
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1670C>G
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.76-19C>G
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.241-19C>G
  variant of: http://identifiers.org/hgnc/14483
canonical: false
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6649
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6389
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4796
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2596
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 9.75e1
  variant carriers: 0
hgvs: c.*16-4C>G
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

17-48445690-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445690
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445689
    reference: chr 17
allele count: 1
allele frequency: 9.363471226052922e-6
allele num: 106798
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.76-32delG
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.241-32delG
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.188-17delG
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*16-17delG
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1657delG
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.76-32delG
  variant of: http://identifiers.org/hgnc/14483
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15745
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8540
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17404
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2831
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5198
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2099
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8653
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3521
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: GC
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

17-48445690-GCTGGT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445690
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445685
    reference: chr 17
allele count: 1
allele frequency: 9.363471226052922e-6
allele num: 106798
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.76-36_76-32delACCAG
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.76-36_76-32delACCAG
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1653_*1657delACCAG
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.188-21_188-17delACCAG
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*16-21_*16-17delACCAG
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.241-36_241-32delACCAG
  variant of: http://identifiers.org/hgnc/14483
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17404
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15745
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8653
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5198
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2099
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7815
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12267
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7200
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2831
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: GCTGGT
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/17-48445691-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445691
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445691
    reference: chr 17
allele count: 3
allele frequency: 2.821935847991722e-5
allele num: 106310
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.76-32G>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*16-17G>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.188-17G>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.76-32G>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.241-32G>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1657G>T
  variant of: http://identifiers.org/hgnc/14483
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17441
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6270
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8546
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15692
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8602
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2809
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12308
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8007
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2067
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

17-48445692-TGGTCAGC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445692
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445685
    reference: chr 17
allele count: 1
allele frequency: 1.125188469068569e-5
allele num: 88874
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.241-40_241-34delGCTGACC
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*16-25_*16-19delGCTGACC
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.76-40_76-34delGCTGACC
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.188-25_188-19delGCTGACC
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.76-40_76-34delGCTGACC
  variant of: http://identifiers.org/hgnc/14483
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17483
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6598
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8750
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15718
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7319
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6043
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8530
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1487
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6041
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4637
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2399
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: TGGTCAGC
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP

17-48445694-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445694
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445694
    reference: chr 17
allele count: 1
allele frequency: 9.544352606562697e-6
allele num: 104774
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.188-20C>G
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*16-20C>G
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.76-35C>G
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.241-35C>G
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.76-35C>G
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1654C>G
  variant of: http://identifiers.org/hgnc/14483
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15567
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4678
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6818
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17431
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3126
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2308
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11562
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7377
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2137
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3051
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1821
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ

17-48445697-AGCG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445697
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445694
    reference: chr 17
allele count: 1
allele frequency: 1.096034547008922e-5
allele num: 91238
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.241-41_241-39delCGC
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.76-41_76-39delCGC
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.76-41_76-39delCGC
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1648_*1650delCGC
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*16-26_*16-24delCGC
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.188-26_188-24delCGC
  variant of: http://identifiers.org/hgnc/14483
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4611
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17755
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15164
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8884
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4307
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5833
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11012
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1881
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2316
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6210
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2584
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: AGCG
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum

17-48445699-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445699
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445699
    reference: chr 17
allele count: 58109
allele frequency: 6.094412048496035e-1
allele num: 95348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1649G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.241-40G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.76-40G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.188-25G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*16-25G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.76-40G>A
  variant of: http://identifiers.org/hgnc/14483
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 106
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 2.75e1
  variant carriers: 3402
genotype depth: GenotypeDepth
  all individuals: 14611
  bin: 1.75e1
  variant carriers: 12447
genotype depth: GenotypeDepth
  all individuals: 18564
  bin: 1.25e1
  variant carriers: 13513
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 158
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 182
genotype depth: GenotypeDepth
  all individuals: 7622
  bin: 2.25e1
  variant carriers: 6790
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 211
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 2.5e0
  variant carriers: 205
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 182
genotype depth: GenotypeDepth
  all individuals: 8177
  bin: 7.5e0
  variant carriers: 4787
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.25e1
  variant carriers: 502
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.75e1
  variant carriers: 302
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 9.75e1
  variant carriers: 737
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 141
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 3.75e1
  variant carriers: 877
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 203
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 3.25e1
  variant carriers: 1691
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.25e1
  variant carriers: 150
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 7.25e1
  variant carriers: 743
genotype quality: GenotypeQuality
  all individuals: 3214
  bin: 2.5e0
  variant carriers: 192
genotype quality: GenotypeQuality
  all individuals: 5462
  bin: 2.25e1
  variant carriers: 1082
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 8.75e1
  variant carriers: 509
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 5.75e1
  variant carriers: 1026
genotype quality: GenotypeQuality
  all individuals: 2505
  bin: 4.75e1
  variant carriers: 2373
genotype quality: GenotypeQuality
  all individuals: 3039
  bin: 3.25e1
  variant carriers: 2139
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 7.5e0
  variant carriers: 294
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 1.25e1
  variant carriers: 375
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 7.75e1
  variant carriers: 905
genotype quality: GenotypeQuality
  all individuals: 1777
  bin: 4.25e1
  variant carriers: 1582
genotype quality: GenotypeQuality
  all individuals: 2002
  bin: 2.75e1
  variant carriers: 1056
genotype quality: GenotypeQuality
  all individuals: 1971
  bin: 6.25e1
  variant carriers: 1320
num of homozygotes: 17012
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-48445705-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445705
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445705
    reference: chr 17
allele count: 1
allele frequency: 1.32488937173746e-5
allele num: 75478
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1643C>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.76-46C>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.188-31C>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.241-46C>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.76-46C>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*16-31C>T
  variant of: http://identifiers.org/hgnc/14483
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6798
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4000
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2132
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5383
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4320
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2086
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4782
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24629
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2142
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/17-48445709-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445709
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445709
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 71806
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.76-50G>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.241-50G>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.188-35G>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*16-35G>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1639G>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.76-50G>T
  variant of: http://identifiers.org/hgnc/14483
canonical: false
consequence: 3' UTR
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 7370
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21900
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4499
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18559
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5542
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3450
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23061
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6552
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2814
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2829
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5341
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

17-48445709-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445709
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445709
    reference: chr 17
allele count: 7
allele frequency: 9.748488984207447e-5
allele num: 71806
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.76-50G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1639G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.76-50G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.188-35G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*16-35G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.241-50G>A
  variant of: http://identifiers.org/hgnc/14483
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4499
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21900
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18559
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7370
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3423
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 2814
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6552
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
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genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 5542
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2142
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 3450
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD

17-48445710-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48445710
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48445710
    reference: chr 17
allele count: 2
allele frequency: 2.840344249723067e-5
allele num: 70414
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.76-51C>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1638C>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.241-51C>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.188-36C>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*16-36C>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.76-51C>T
  variant of: http://identifiers.org/hgnc/14483
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4609
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19031
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7394
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21613
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3468
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5292
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5610
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3090
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3125
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3069
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum

17-48446177-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48446177
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48446177
    reference: chr 17
allele count: 1
allele frequency: 9.317927692881103e-5
allele num: 10732
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.76-518G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.76-518G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1171G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.241-518G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.188-503G>A
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*15+22G>A
  variant of: http://identifiers.org/hgnc/14483
canonical: false
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  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: 37
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1383
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

17-48446194-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48446194
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48446194
    reference: chr 17
allele count: 1
allele frequency: 9.312721177127957e-5
allele num: 10738
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.76-535G>C
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.188-520G>C
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*15+5G>C
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1154G>C
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.76-535G>C
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.241-535G>C
  variant of: http://identifiers.org/hgnc/14483
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  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: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
hgvs: c.*15+5G>C
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-48446210-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48446210
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48446210
    reference: chr 17
allele count: 9
allele frequency: 8.3674228337672e-4
allele num: 10756
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.188-536C>G
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1138C>G
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.76-551C>G
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.76-551C>G
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*4C>G
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.241-551C>G
  variant of: http://identifiers.org/hgnc/14483
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  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: 1621
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

17-48446211-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48446211
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48446211
    reference: chr 17
allele count: 3
allele frequency: 2.789659661521294e-4
allele num: 10754
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000388915
  ensembl transcript: ENST00000442592
  gene symbol: MRPL27
  hgvsc: ENST00000442592.3:c.*1137C>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000225969
  ensembl transcript: ENST00000225969
  gene symbol: MRPL27
  hgvsc: ENST00000225969.4:c.241-552C>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000425126
  ensembl transcript: ENST00000503633
  gene symbol: MRPL27
  hgvsc: ENST00000503633.1:c.*3C>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000421865
  ensembl transcript: ENST00000507088
  gene symbol: MRPL27
  hgvsc: ENST00000507088.1:c.76-552C>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000424321
  ensembl transcript: ENST00000508200
  gene symbol: MRPL27
  hgvsc: ENST00000508200.1:c.188-537C>T
  variant of: http://identifiers.org/hgnc/14483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108826
  ensembl protein: ENSP00000426037
  ensembl transcript: ENST00000511860
  gene symbol: MRPL27
  hgvsc: ENST00000511860.1:c.76-552C>T
  variant of: http://identifiers.org/hgnc/14483
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 126
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.641137855579869e-3
allele num: 1828
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 116
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.85e-1

DP
type: SiteQuality
SIO_000300: 8.0983e4

BaseQRankSum
type: SiteQuality
SIO_000300: 9.01e-1

QD
type: SiteQuality
SIO_000300: 9.800000000000001e0

FS
type: SiteQuality
SIO_000300: 1.2463e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

MQ
type: SiteQuality
SIO_000300: 4.81e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 108
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.983293556085919e-4
allele num: 6704
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 88
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2468
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.08e-2

FS
type: SiteQuality
SIO_000300: 1.171e0

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 1.14578e5

QD
type: SiteQuality
SIO_000300: 1.004e1

MQ
type: SiteQuality
SIO_000300: 5.582e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.86e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.43e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.499700059988002e-4
allele num: 6668
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 108
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.02e-1

MQ
type: SiteQuality
SIO_000300: 5.495e1

DP
type: SiteQuality
SIO_000300: 1.14698e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.16e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.54e-1

FS
type: SiteQuality
SIO_000300: 4.32e0

QD
type: SiteQuality
SIO_000300: 1.263e1

VQSLOD
type: SiteQuality
SIO_000300: -1.356e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.54e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.24e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2408
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 104
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.10348e5

MQ
type: SiteQuality
SIO_000300: 5.521e1

VQSLOD
type: SiteQuality
SIO_000300: -3.13e-1

QD
type: SiteQuality
SIO_000300: 8.699999999999999e0

FS
type: SiteQuality
SIO_000300: 1.277e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.56e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2314
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 102
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.621271076523995e-4
allele num: 6168
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 76
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.06e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.72e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.266e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.95e-1

MQ
type: SiteQuality
SIO_000300: 5.435e1

DP
type: SiteQuality
SIO_000300: 9.167e4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.75e-1

QD
type: SiteQuality
SIO_000300: 3.93e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2084
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.903311762466692e-4
allele num: 5254
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.101e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e0

VQSLOD
type: SiteQuality
SIO_000300: -1.446e0

FS
type: SiteQuality
SIO_000300: 6.235e0

QD
type: SiteQuality
SIO_000300: 1.14e1

DP
type: SiteQuality
SIO_000300: 7.0077e4

MQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.65e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.72e-1

Latino
type: Population
allele count: 1
allele frequency: 5.0e-1
allele num: 2
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 33
allele frequency: 1.330645161290323e-1
allele num: 248
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.017e-1

FS
type: SiteQuality
SIO_000300: 1.7055e1

MQ
type: SiteQuality
SIO_000300: 5.56e1

QD
type: SiteQuality
SIO_000300: 2.11e0

MQRankSum
type: SiteQuality
SIO_000300: 6.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

DP
type: SiteQuality
SIO_000300: 4.5962e4

VQSLOD
type: SiteQuality
SIO_000300: -2.65e-1

African
type: Population
allele count: 14
allele frequency: 4.117647058823529e-1
allele num: 34
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 4.166666666666667e-1
allele num: 12
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 84
allele frequency: 3.387096774193548e-1
allele num: 248
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.65e-1

FS
type: SiteQuality
SIO_000300: 1.7055e1

MQRankSum
type: SiteQuality
SIO_000300: 6.3e-2

DP
type: SiteQuality
SIO_000300: 4.5962e4

MQ
type: SiteQuality
SIO_000300: 5.56e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.017e-1

QD
type: SiteQuality
SIO_000300: 2.11e0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.225806451612903e-2
allele num: 62
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 9.554140127388535e-3
allele num: 314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 8.064516129032258e-3
allele num: 248
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.7e-2

MQ
type: SiteQuality
SIO_000300: 5.56e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.017e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.3e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

QD
type: SiteQuality
SIO_000300: 2.11e0

FS
type: SiteQuality
SIO_000300: 1.7055e1

DP
type: SiteQuality
SIO_000300: 4.5962e4

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1054
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

QD
type: SiteQuality
SIO_000300: 7.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.08e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.8755e4

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.29e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1162
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2278
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1327
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1722
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2305
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15720
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510802235987309e-5
allele num: 66190
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.061e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.23e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.44e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.2e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.699212e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.139999999999999e-1

GenotypeQuality
all individuals: 8440
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37412
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 568
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1272
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1151
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15744
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509980974239725e-5
allele num: 66226
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.908e0

DP
type: SiteQuality
SIO_000300: 1.727658e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.499e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.74e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.57e0

GenotypeQuality
all individuals: 252
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 827
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2243
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 157
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1157
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.688097306689835e-5
allele num: 11510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66292
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15850
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.74652e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

MQ
type: SiteQuality
SIO_000300: 5.782e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.281e0

MQRankSum
type: SiteQuality
SIO_000300: 8.68e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.668e0

QD
type: SiteQuality
SIO_000300: 3.57e0

GenotypeQuality
all individuals: 236
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2195
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41050
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8728
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16060
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505389293671343e-5
allele num: 66428
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.671522719389525e-5
allele num: 11532
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.772313e6

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 2.592e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.152e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.94e-1

GenotypeQuality
all individuals: 113
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8807
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2231
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41394
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 3.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16134
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66484
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.856536829926726e-4
allele num: 10372
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.02e-1

DP
type: SiteQuality
SIO_000300: 1.775745e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.83e0

VQSLOD
type: SiteQuality
SIO_000300: 9.79e-1

FS
type: SiteQuality
SIO_000300: 1.516e0

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

QD
type: SiteQuality
SIO_000300: 1.055e1

GenotypeQuality
all individuals: 2210
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41772
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1176
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2245
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16246
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50271992306074e-5
allele num: 66546
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

QD
type: SiteQuality
SIO_000300: 9.98e0

FS
type: SiteQuality
SIO_000300: 2.026e0

DP
type: SiteQuality
SIO_000300: 1.782586e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.167e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e-1

GenotypeQuality
all individuals: 59
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2186
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2697
bin: 9.75e1
variant carriers: 589

GenotypeQuality
all individuals: 58
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variant carriers: 0

GenotypeQuality
all individuals: 42
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variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1113
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 3
allele frequency: 3.311258278145695e-3
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 501
allele frequency: 7.519586948038303e-3
allele num: 66626
num of homozygotes: 1

African
type: Population
allele count: 13
allele frequency: 1.250962278675905e-3
allele num: 10392
num of homozygotes: 0

Latino
type: Population
allele count: 28
allele frequency: 2.423403150424096e-3
allele num: 11554
num of homozygotes: 0

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

South Asian
type: Population
allele count: 19
allele frequency: 1.157548434263434e-3
allele num: 16414
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 28
allele frequency: 4.243710215216732e-3
allele num: 6598
num of homozygotes: 1

VQSLOD
type: SiteQuality
SIO_000300: 4.84e0

DP
type: SiteQuality
SIO_000300: 1.81e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.933e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.21e-1

QD
type: SiteQuality
SIO_000300: 1.239e1

MQ
type: SiteQuality
SIO_000300: 5.938e1

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2273
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9017
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1127
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2221
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.923816852635629e-4
allele num: 10396
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e0

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

FS
type: SiteQuality
SIO_000300: 1.8702e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

DP
type: SiteQuality
SIO_000300: 1.794245e6

VQSLOD
type: SiteQuality
SIO_000300: -2.08e0

QD
type: SiteQuality
SIO_000300: 1.798e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 2217
bin: 7.75e1
variant carriers: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 6.069434328720563e-4
allele num: 16476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.939e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.735e0

VQSLOD
type: SiteQuality
SIO_000300: 8.63e-1

DP
type: SiteQuality
SIO_000300: 1.797337e6

FS
type: SiteQuality
SIO_000300: 1.423e0

MQRankSum
type: SiteQuality
SIO_000300: 5.34e-1

QD
type: SiteQuality
SIO_000300: 1.038e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.17e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.841e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.147e0

MQ
type: SiteQuality
SIO_000300: 5.826e1

DP
type: SiteQuality
SIO_000300: 1.797511e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.77e0

QD
type: SiteQuality
SIO_000300: 1.171e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1126
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.253e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.71e-1

DP
type: SiteQuality
SIO_000300: 1.799505e6

MQRankSum
type: SiteQuality
SIO_000300: 1.72e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.923e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.37e-1

QD
type: SiteQuality
SIO_000300: 6.97e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2214
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1126
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997512064986062e-5
allele num: 66722
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.19e1

FS
type: SiteQuality
SIO_000300: 1.4355e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.962e1

MQRankSum
type: SiteQuality
SIO_000300: 2.03e0

VQSLOD
type: SiteQuality
SIO_000300: -2.267e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.29e-1

DP
type: SiteQuality
SIO_000300: 1.799667e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.36e-1

GenotypeQuality
all individuals: 9060
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 63

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 527
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variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42881
bin: 6.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

East Asian
type: Population
allele count: 63
allele frequency: 7.281553398058253e-3
allele num: 8652
num of homozygotes: 1

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.803806e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.81e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.46e-1

FS
type: SiteQuality
SIO_000300: 1.119e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.623e0

QD
type: SiteQuality
SIO_000300: 1.201e1

MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 9.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.34e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.76e-1

FS
type: SiteQuality
SIO_000300: 2.433e0

VQSLOD
type: SiteQuality
SIO_000300: 6.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.800364e6

MQ
type: SiteQuality
SIO_000300: 5.956e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.399999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.08e-1

QD
type: SiteQuality
SIO_000300: 1.616e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.521e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.012e0

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.04890913450012e-4
allele num: 66736
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 10
allele frequency: 1.512401693889897e-3
allele num: 6612
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.182e1

VQSLOD
type: SiteQuality
SIO_000300: 6.22e-1

MQRankSum
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.866e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
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allele num: 908
num of homozygotes: 0

South Asian
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African
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allele frequency: 1.922337562475971e-4
allele num: 10404
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -7.13e-1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.884e1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.800578e6

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 2111
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

South Asian
type: Population
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num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.289e0

MQ
type: SiteQuality
SIO_000300: 5.926e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: -6.58e-1

QD
type: SiteQuality
SIO_000300: 1.257e1

DP
type: SiteQuality
SIO_000300: 1.800501e6

GenotypeQuality
all individuals: 2261
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2206
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2111
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 530
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.922337562475971e-4
allele num: 10404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -8.982e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 4.847e0

DP
type: SiteQuality
SIO_000300: 1.800698e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.783e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 5.875e1

MQRankSum
type: SiteQuality
SIO_000300: 9.12e-1

QD
type: SiteQuality
SIO_000300: 1.225e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.8e-1

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

GenotypeQuality
all individuals: 42950
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1117
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9066
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.800763e6

VQSLOD
type: SiteQuality
SIO_000300: 3.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.264e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.13e0

MQRankSum
type: SiteQuality
SIO_000300: 2.15e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.148e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

GenotypeQuality
all individuals: 9067
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1117
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2258
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.800736e6

FS
type: SiteQuality
SIO_000300: 9.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.5e-1

QD
type: SiteQuality
SIO_000300: 1.404e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.294e0

GenotypeQuality
all individuals: 2258
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2110
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2211
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

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

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

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.042e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.934e1

FS
type: SiteQuality
SIO_000300: 5.31e-1

DP
type: SiteQuality
SIO_000300: 1.800866e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.51e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.54e-1

QD
type: SiteQuality
SIO_000300: 1.156e1

VQSLOD
type: SiteQuality
SIO_000300: 3.3e-1

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

GenotypeQuality
all individuals: 2109
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 441
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1117
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2209
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9056
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42951
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.38e-1

MQ
type: SiteQuality
SIO_000300: 5.676e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.561e0

DP
type: SiteQuality
SIO_000300: 1.800766e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 6.74e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.667e-1

QD
type: SiteQuality
SIO_000300: 2.179e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-2

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

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2259
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1117
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.4e1

DP
type: SiteQuality
SIO_000300: 1.800925e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.511e0

MQ
type: SiteQuality
SIO_000300: 5.824e1

MQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e0

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

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2260
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2207
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 442
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1119
bin: 8.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.800891e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.532e0

MQRankSum
type: SiteQuality
SIO_000300: -7.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.07e-1

FS
type: SiteQuality
SIO_000300: 7.2e0

QD
type: SiteQuality
SIO_000300: 1.052e1

VQSLOD
type: SiteQuality
SIO_000300: -2.394e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

GenotypeQuality
all individuals: 6
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2260
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2108
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1119
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2207
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e-1

QD
type: SiteQuality
SIO_000300: 1.425e1

MQ
type: SiteQuality
SIO_000300: 5.904e1

MQRankSum
type: SiteQuality
SIO_000300: 6.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.183e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.6133e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-2

DP
type: SiteQuality
SIO_000300: 1.80091e6

GenotypeQuality
all individuals: 1119
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2260
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2109
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2207
bin: 7.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

DP
type: SiteQuality
SIO_000300: 1.800904e6

FS
type: SiteQuality
SIO_000300: 8.032e0

QD
type: SiteQuality
SIO_000300: 1.053e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -7.84e-2

GenotypeQuality
all individuals: 42945
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2107
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 530
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e0

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

DP
type: SiteQuality
SIO_000300: 1.800902e6

MQRankSum
type: SiteQuality
SIO_000300: 5.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e0

FS
type: SiteQuality
SIO_000300: 1.557e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

QD
type: SiteQuality
SIO_000300: 1.437e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2208
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1118
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 440
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

DP
type: SiteQuality
SIO_000300: 1.800887e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.4e-2

FS
type: SiteQuality
SIO_000300: 2.471e0

QD
type: SiteQuality
SIO_000300: 1.272e1

GenotypeQuality
all individuals: 2261
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2106
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 439
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.354e0

FS
type: SiteQuality
SIO_000300: 9.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-2

MQ
type: SiteQuality
SIO_000300: 5.918e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e-1

QD
type: SiteQuality
SIO_000300: 1.291e1

DP
type: SiteQuality
SIO_000300: 1.800839e6

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

GenotypeQuality
all individuals: 2259
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variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2104
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 42934
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.922337562475971e-4
allele num: 10404
num of homozygotes: 0

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.800532e6

FS
type: SiteQuality
SIO_000300: 7.286e0

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.167e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.41e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

QD
type: SiteQuality
SIO_000300: 1.24e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.21e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.7e-3

GenotypeQuality
all individuals: 438
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2210
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

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

GenotypeQuality
all individuals: 2107
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 42933
bin: 6.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.990649724286742e-5
allele num: 66736
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.242e1

FS
type: SiteQuality
SIO_000300: 4.315e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.15e-1

MQ
type: SiteQuality
SIO_000300: 5.892e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.08e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.34e-2

DP
type: SiteQuality
SIO_000300: 1.800854e6

BaseQRankSum
type: SiteQuality
SIO_000300: 9.0e-2

GenotypeQuality
all individuals: 1118
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2255
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9045
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2101
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 526
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variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.817080557238038e-4
allele num: 16510
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.03e-1

FS
type: SiteQuality
SIO_000300: 2.695e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

DP
type: SiteQuality
SIO_000300: 1.800148e6

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.98e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.485e0

QD
type: SiteQuality
SIO_000300: 1.534e1

MQ
type: SiteQuality
SIO_000300: 5.907e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.36e-1

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 72
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 435
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variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 2202
bin: 7.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 22
allele frequency: 2.114977888867526e-3
allele num: 10402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 1.168e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.81e-1

MQ
type: SiteQuality
SIO_000300: 5.772e1

DP
type: SiteQuality
SIO_000300: 1.800648e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.236e0

VQSLOD
type: SiteQuality
SIO_000300: 1.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.89e-1

QD
type: SiteQuality
SIO_000300: 1.256e1

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
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variant carriers: 0

GenotypeQuality
all individuals: 525
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 9043
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2254
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variant carriers: 0

GenotypeQuality
all individuals: 2202
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.799707e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.417e0

MQRankSum
type: SiteQuality
SIO_000300: 1.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.749e0

MQ
type: SiteQuality
SIO_000300: 5.896e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.341e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.26e0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9029
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GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.027e0

QD
type: SiteQuality
SIO_000300: 1.118e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.511e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.09e-1

MQ
type: SiteQuality
SIO_000300: 5.685e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.28e-1

DP
type: SiteQuality
SIO_000300: 1.799365e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9
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GenotypeQuality
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GenotypeQuality
all individuals: 9023
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variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998410842253606e-5
allele num: 66702
num of homozygotes: 0

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

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

South Asian
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allele count: 0
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allele num: 16504
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.328e1

MQ
type: SiteQuality
SIO_000300: 5.777e1

DP
type: SiteQuality
SIO_000300: 1.799517e6

MQRankSum
type: SiteQuality
SIO_000300: -5.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.444e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.37e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.199652100890742e-4
allele num: 66686
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 14
allele frequency: 1.210444406017638e-3
allele num: 11566
num of homozygotes: 0

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

African
type: Population
allele count: 320
allele frequency: 3.076331474716401e-2
allele num: 10402
num of homozygotes: 7

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.97e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.19e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.813655e6

FS
type: SiteQuality
SIO_000300: 5.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.82e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.93e-1

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 427
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GenotypeQuality
all individuals: 23
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.399999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.276e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.24e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.800272e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.39e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

QD
type: SiteQuality
SIO_000300: 1.126e1

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

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

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2000
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 425
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1104
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9038
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.923446816695518e-4
allele num: 10398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.049884512703603e-4
allele num: 66674
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.46e-1

FS
type: SiteQuality
SIO_000300: 6.5e-1

DP
type: SiteQuality
SIO_000300: 1.800214e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.38e-1

QD
type: SiteQuality
SIO_000300: 1.251e1

MQ
type: SiteQuality
SIO_000300: 5.823e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.031e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.009e0

GenotypeQuality
all individuals: 290
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2160
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9027
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.522533495736906e-4
allele num: 6568
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.59e0

VQSLOD
type: SiteQuality
SIO_000300: -3.171e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.81e-1

FS
type: SiteQuality
SIO_000300: 1.254e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.608e1

DP
type: SiteQuality
SIO_000300: 1.798473e6

MQ
type: SiteQuality
SIO_000300: 5.836e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.135e0

GenotypeQuality
all individuals: 8776
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1978
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 408
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.081245439065921e-5
allele num: 16444
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66564
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.785776e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.74e-1

MQ
type: SiteQuality
SIO_000300: 5.937e1

MQRankSum
type: SiteQuality
SIO_000300: 4.26e-1

FS
type: SiteQuality
SIO_000300: 1.276e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.91e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.068e0

QD
type: SiteQuality
SIO_000300: 5.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.296e0

GenotypeQuality
all individuals: 172
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2095
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1054
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2101
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.093102607847916e-5
allele num: 16412
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66488
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.034e0

MQ
type: SiteQuality
SIO_000300: 5.896e1

MQRankSum
type: SiteQuality
SIO_000300: 7.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

FS
type: SiteQuality
SIO_000300: 1.033e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.82e-1

DP
type: SiteQuality
SIO_000300: 1.769682e6

QD
type: SiteQuality
SIO_000300: 2.408e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e0

GenotypeQuality
all individuals: 1926
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3818
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1549
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12430
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23226
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3964
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.787346221441125e-5
allele num: 11380
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6368
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65674
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.485e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

FS
type: SiteQuality
SIO_000300: 1.358e0

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.185e0

MQ
type: SiteQuality
SIO_000300: 5.411e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.93e-1

QD
type: SiteQuality
SIO_000300: 8.039999999999999e0

DP
type: SiteQuality
SIO_000300: 1.607651e6

GenotypeQuality
all individuals: 329
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12430
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23226
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1687
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3818
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1549
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5678
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1981
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522672594938636e-5
allele num: 65674
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6368
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16194
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.039999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

FS
type: SiteQuality
SIO_000300: 1.358e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.485e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.75e-1

MQ
type: SiteQuality
SIO_000300: 5.411e1

VQSLOD
type: SiteQuality
SIO_000300: -1.185e0

DP
type: SiteQuality
SIO_000300: 1.607651e6

GenotypeQuality
all individuals: 469
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3890
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4029
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 813
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1875
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 850
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.300595238095238e-5
allele num: 10752
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10022
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63926
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15990
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6242
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.605255e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.172e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.13e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

QD
type: SiteQuality
SIO_000300: 2.99e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.45e-1

GenotypeQuality
all individuals: 1900
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2524
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4851
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1823
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 903
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7355
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52914
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14624
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5174
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7396
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8028
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.204238921001927e-4
allele num: 8304
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.04e0

MQ
type: SiteQuality
SIO_000300: 4.907e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.98e-2

DP
type: SiteQuality
SIO_000300: 1.524492e6

VQSLOD
type: SiteQuality
SIO_000300: 1.76e-1

FS
type: SiteQuality
SIO_000300: 5.947e0

QD
type: SiteQuality
SIO_000300: 5.55e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.968e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.355e0

GenotypeQuality
all individuals: 1210
bin: 5.25e1
variant carriers: 1157

GenotypeQuality
all individuals: 5812
bin: 6.25e1
variant carriers: 815

GenotypeQuality
all individuals: 2304
bin: 3.75e1
variant carriers: 1143

GenotypeQuality
all individuals: 422
bin: 8.75e1
variant carriers: 295

GenotypeQuality
all individuals: 1090
bin: 7.25e1
variant carriers: 512

GenotypeQuality
all individuals: 3248
bin: 3.25e1
variant carriers: 887

GenotypeQuality
all individuals: 28155
bin: 9.75e1
variant carriers: 27414

South Asian
type: Population
allele count: 4581
allele frequency: 3.00511676725269e-1
allele num: 15244
num of homozygotes: 762

African
type: Population
allele count: 4613
allele frequency: 4.947447447447447e-1
allele num: 9324
num of homozygotes: 1169

European (Non-Finnish)
type: Population
allele count: 26262
allele frequency: 4.473935264054514e-1
allele num: 58700
num of homozygotes: 5814

East Asian
type: Population
allele count: 840
allele frequency: 1.049213090182363e-1
allele num: 8006
num of homozygotes: 45

Latino
type: Population
allele count: 5510
allele frequency: 5.831922099915327e-1
allele num: 9448
num of homozygotes: 1576

European (Finnish)
type: Population
allele count: 2115
allele frequency: 3.770053475935829e-1
allele num: 5610
num of homozygotes: 412

Other
type: Population
allele count: 312
allele frequency: 3.804878048780488e-1
allele num: 820
num of homozygotes: 65

DP
type: SiteQuality
SIO_000300: 1.226069e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.93e-1

FS
type: SiteQuality
SIO_000300: 1.028e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.270000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.262e0

QD
type: SiteQuality
SIO_000300: 9.52e0

MQ
type: SiteQuality
SIO_000300: 5.265e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

GenotypeQuality
all individuals: 78
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1328
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 829
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2173
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 697
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2208
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 7.5e0
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18088
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 6.105006105006105e-4
allele num: 1638
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 320
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2144
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6044
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

QD
type: SiteQuality
SIO_000300: 2.873e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.38e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.116e0

MQRankSum
type: SiteQuality
SIO_000300: 4.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.88e-1

DP
type: SiteQuality
SIO_000300: 4.55043e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

MQ
type: SiteQuality
SIO_000300: 5.924e1

GenotypeQuality
all individuals: 692
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12267
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7200
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7815
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1303
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3184
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.696295291084272e-5
allele num: 58952
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14988
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9298
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5590
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

MQ
type: SiteQuality
SIO_000300: 4.925e1

DP
type: SiteQuality
SIO_000300: 1.206631e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.921e0

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.88e-1

FS
type: SiteQuality
SIO_000300: 7.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.228e0

QD
type: SiteQuality
SIO_000300: 1.07e1

GenotypeQuality
all individuals: 692
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1270
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3521
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3184
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 671
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 948
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9580
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5590
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.672004270082733e-5
allele num: 14988
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9298
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58952
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.92e0

MQRankSum
type: SiteQuality
SIO_000300: -1.921e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.228e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

QD
type: SiteQuality
SIO_000300: 1.07e1

MQ
type: SiteQuality
SIO_000300: 4.925e1

DP
type: SiteQuality
SIO_000300: 1.206631e6

GenotypeQuality
all individuals: 3490
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7161
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3184
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 5186
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 933
bin: 7.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14974
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.114915092409466e-5
allele num: 58652
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -8.671e-1

FS
type: SiteQuality
SIO_000300: 3.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e-1

QD
type: SiteQuality
SIO_000300: 1.813e1

DP
type: SiteQuality
SIO_000300: 1.205719e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.246e0

MQ
type: SiteQuality
SIO_000300: 5.413e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

GenotypeQuality
all individuals: 1198
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2479
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10862
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3031
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.06287647495668e-5
allele num: 48476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13782
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4800
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6804
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6936
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7356
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.97e0

QD
type: SiteQuality
SIO_000300: 4.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.295e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.62e0

MQ
type: SiteQuality
SIO_000300: 4.95e1

DP
type: SiteQuality
SIO_000300: 1.193893e6

GenotypeQuality
all individuals: 5197
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8691
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5230
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 664
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4355
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9304
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57872
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7338
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9118
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.733099919202801e-5
allele num: 14852
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.01e-1

FS
type: SiteQuality
SIO_000300: 3.854e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.5e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.16e-2

QD
type: SiteQuality
SIO_000300: 1.821e1

DP
type: SiteQuality
SIO_000300: 1.189661e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3730
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7566
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2528
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2126
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4793
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1561
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7172
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.163323782234957e-5
allele num: 13960
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49908
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

European (Finnish)
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: 7478
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7116
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.92e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.93e-2

MQ
type: SiteQuality
SIO_000300: 4.386e1

DP
type: SiteQuality
SIO_000300: 1.175536e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

VQSLOD
type: SiteQuality
SIO_000300: 2.36e0

MQRankSum
type: SiteQuality
SIO_000300: 2.02e0

GenotypeQuality
all individuals: 1367
bin: 1.75e1
variant carriers: 761

GenotypeQuality
all individuals: 771
bin: 8.25e1
variant carriers: 709

GenotypeQuality
all individuals: 1920
bin: 5.25e1
variant carriers: 1820

GenotypeQuality
all individuals: 2620
bin: 3.75e1
variant carriers: 2182

GenotypeQuality
all individuals: 527
bin: 9.25e1
variant carriers: 484

GenotypeQuality
all individuals: 26416
bin: 9.75e1
variant carriers: 26167

GenotypeQuality
all individuals: 1191
bin: 6.75e1
variant carriers: 1003

East Asian
type: Population
allele count: 6434
allele frequency: 8.889195910472506e-1
allele num: 7238
num of homozygotes: 2845

European (Finnish)
type: Population
allele count: 3230
allele frequency: 6.36327817178881e-1
allele num: 5076
num of homozygotes: 969

European (Non-Finnish)
type: Population
allele count: 30129
allele frequency: 5.785360420907101e-1
allele num: 52078
num of homozygotes: 7906

Other
type: Population
allele count: 476
allele frequency: 6.296296296296297e-1
allele num: 756
num of homozygotes: 148

South Asian
type: Population
allele count: 10252
allele frequency: 7.103658536585366e-1
allele num: 14432
num of homozygotes: 3594

Latino
type: Population
allele count: 3546
allele frequency: 4.686756542426646e-1
allele num: 7566
num of homozygotes: 646

African
type: Population
allele count: 4042
allele frequency: 4.928066325286515e-1
allele num: 8202
num of homozygotes: 904

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.92e0

MQ
type: SiteQuality
SIO_000300: 5.585e1

DP
type: SiteQuality
SIO_000300: 1.176094e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

QD
type: SiteQuality
SIO_000300: 2.35e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e0

VQSLOD
type: SiteQuality
SIO_000300: 3.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.82e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-1

GenotypeQuality
all individuals: 950
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3268
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6499
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11774
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4516
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.793400286944046e-4
allele num: 5576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42106
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3858
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.42e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.294e0

VQSLOD
type: SiteQuality
SIO_000300: -4.522e-1

DP
type: SiteQuality
SIO_000300: 8.6518e5

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-1

MQ
type: SiteQuality
SIO_000300: 4.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.06e-1

QD
type: SiteQuality
SIO_000300: 1.814e1

GenotypeQuality
all individuals: 3423
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2142
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 308
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3678
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40080
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6794
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4070
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5230
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11368
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.424e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.72e-1

QD
type: SiteQuality
SIO_000300: 1.347e1

DP
type: SiteQuality
SIO_000300: 8.37128e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

MQRankSum
type: SiteQuality
SIO_000300: -3.12e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.483e0

FS
type: SiteQuality
SIO_000300: 9.516999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.61e-1

GenotypeQuality
all individuals: 2829
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 932
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23061
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
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variant carriers: 0

GenotypeQuality
all individuals: 5341
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 9.98003992015968e-5
allele num: 40080
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6794
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.718868950516585e-4
allele num: 3678
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4070
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5230
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.759324419422942e-4
allele num: 11368
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.483e0

FS
type: SiteQuality
SIO_000300: 9.516999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.72e-1

MQ
type: SiteQuality
SIO_000300: 5.424e1

MQRankSum
type: SiteQuality
SIO_000300: -3.12e-1

DP
type: SiteQuality
SIO_000300: 8.37128e5

QD
type: SiteQuality
SIO_000300: 1.347e1

GenotypeQuality
all individuals: 988
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2133
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 6493
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22547
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1123
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11232
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.546213780108978e-5
allele num: 39274
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6690
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5034
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.767017155506364e-4
allele num: 3614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3994
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.447e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.58e-2

DP
type: SiteQuality
SIO_000300: 8.28518e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.19e-1

MQ
type: SiteQuality
SIO_000300: 4.558e1

VQSLOD
type: SiteQuality
SIO_000300: -9.558e-1

QD
type: SiteQuality
SIO_000300: 1.34e1

FS
type: SiteQuality
SIO_000300: 1.958e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.383e0

GenotypeQuality
all individuals: 410
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 634
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.333333333333333e-4
allele num: 7500
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2700
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.335e0

QD
type: SiteQuality
SIO_000300: 6.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.699e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.62e0

MQRankSum
type: SiteQuality
SIO_000300: -2.23e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.97e-2

MQ
type: SiteQuality
SIO_000300: 5.861e1

DP
type: SiteQuality
SIO_000300: 1.80401e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.426e0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1238
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1293
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.332977872567315e-4
allele num: 7502
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2704
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.13e-1

DP
type: SiteQuality
SIO_000300: 1.81646e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.16e-1

MQ
type: SiteQuality
SIO_000300: 5.909e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

MQRankSum
type: SiteQuality
SIO_000300: 2.69e-1

QD
type: SiteQuality
SIO_000300: 9.890000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.68e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.69e-1

GenotypeQuality
all individuals: 293
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1246
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 9
allele frequency: 1.199360341151386e-3
allele num: 7504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2718
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.122e0

MQRankSum
type: SiteQuality
SIO_000300: -3.39e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.23e0

VQSLOD
type: SiteQuality
SIO_000300: 2.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.43e-2

MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.49e-1

DP
type: SiteQuality
SIO_000300: 1.82142e5