16-55905754-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55905754
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55905754
    reference: chr 16
allele count: 2
allele frequency: 4.794323520951194e-5
allele num: 41716
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-8390C>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.279-79C>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-40-79C>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-40-79C>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.279-79C>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-40-79C>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.366-79C>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.279-79C>A
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25693
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12437
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17374
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3278
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2050
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

16-55905754-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55905754
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55905754
    reference: chr 16
allele count: 4
allele frequency: 9.588647041902388e-5
allele num: 41716
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-40-79C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-40-79C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.279-79C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-8390C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.366-79C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-40-79C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.279-79C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.279-79C>T
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25693
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17374
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12437
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2050
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3278
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1022
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1901
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

16-55905755-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55905755
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55905755
    reference: chr 16
allele count: 40
allele frequency: 9.569835877314704e-4
allele num: 41798
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.279-80C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-40-80C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.279-80C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-40-80C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-40-80C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-8391C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.366-80C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.279-80C>T
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17215
  bin: 1.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12537
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25875
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2841
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1631
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1995
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33100
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

16-55905759-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55905759
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55905759
    reference: chr 16
allele count: 13
allele frequency: 3.496127366609294e-4
allele num: 37184
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-8395C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-40-84C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-40-84C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.366-84C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.279-84C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-40-84C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.279-84C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.279-84C>T
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25738
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14935
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15527
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15796
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30629
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

16-55905767-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55905767
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55905767
    reference: chr 16
allele count: 3
allele frequency: 1.068452168957903e-4
allele num: 28078
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-40-92G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.366-92G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-8403G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.279-92G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-40-92G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.279-92G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-40-92G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.279-92G>A
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19363
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25470
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11917
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3405
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25245
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3759
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1473
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

16-55905768-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55905768
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55905768
    reference: chr 16
allele count: 3
allele frequency: 1.131990038487661e-4
allele num: 26502
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-40-93C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-40-93C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.279-93C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-40-93C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.279-93C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.279-93C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-8404C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.366-93C>T
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25485
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11428
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19873
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20313
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2058
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3326
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

16-55905768-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55905768
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55905768
    reference: chr 16
allele count: 736
allele frequency: 2.777148894423062e-2
allele num: 26502
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-40-93C>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.279-93C>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-8404C>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-40-93C>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.366-93C>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.279-93C>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-40-93C>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.279-93C>A
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 2.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19873
  bin: 2.5e0
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 25485
  bin: 7.5e0
  variant carriers: 621
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 2.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 1.75e1
  variant carriers: 140
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11428
  bin: 1.25e1
  variant carriers: 525
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 24036
  bin: 2.25e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 3.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 9.75e1
  variant carriers: 816
genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 3.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 20313
  bin: 7.5e0
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 3429
  bin: 1.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 33
num of homozygotes: 11
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

16-55905771-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55905771
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55905771
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 24128
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.366-96A>G
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.279-96A>G
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.279-96A>G
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-40-96A>G
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-40-96A>G
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-40-96A>G
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.279-96A>G
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-8407A>G
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21625
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25114
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3675
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1735
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

16-55905790-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55905790
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55905790
    reference: chr 16
allele count: 13
allele frequency: 9.005264616237184e-4
allele num: 14436
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-40-115T>C
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.279-115T>C
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-40-115T>C
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-40-115T>C
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.279-115T>C
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-8426T>C
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.279-115T>C
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.366-115T>C
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27070
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23435
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5544
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4733
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25933
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 1
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum

16-55905801-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55905801
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55905801
    reference: chr 16
allele count: 1
allele frequency: 8.89521437466643e-5
allele num: 11242
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-40-126C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.366-126C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.279-126C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.279-126C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-40-126C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.279-126C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-40-126C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-8437C>T
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4100
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24311
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27271
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7961
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8921
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

16-55907694-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907694
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907694
    reference: chr 16
allele count: 1
allele frequency: 1.128209756757976e-5
allele num: 88636
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.278+51G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-41+41G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.278+51G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-41+51G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.278+51G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10330G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-41+51G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.365+51G>A
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9785
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13039
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8333
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14737
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8380
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3695
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8603
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

16-55907698-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907698
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907698
    reference: chr 16
allele count: 1
allele frequency: 1.13252848309135e-5
allele num: 88298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.278+47G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.278+47G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-41+47G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-41+47G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10334G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-41+37G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.278+47G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.365+47G>A
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14737
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8487
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6529
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12975
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1584
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11120
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2021
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2743
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2177
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6250
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

16-55907701-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907701
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907701
    reference: chr 16
allele count: 2
allele frequency: 2.238488572515837e-5
allele num: 89346
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.278+44G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.365+44G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10337G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.278+44G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-41+44G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-41+44G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.278+44G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-41+34G>A
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14670
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12982
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6995
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6698
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12956
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2841
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6260
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11057
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4954
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP

16-55907710-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907710
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907710
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 90626
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.365+35A>C
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-41+35A>C
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.278+35A>C
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-41+25A>C
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-41+35A>C
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.278+35A>C
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.278+35A>C
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10346A>C
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13007
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7268
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3948
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17712
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD

16-55907715-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907715
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907715
    reference: chr 16
allele count: 1
allele frequency: 1.087452967659149e-5
allele num: 91958
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.365+30T>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-41+30T>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-41+20T>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.278+30T>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-41+30T>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10351T>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.278+30T>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.278+30T>A
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12854
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11725
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12627
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20641
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3081
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

16-55907718-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907718
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907718
    reference: chr 16
allele count: 2
allele frequency: 2.162021922902298e-5
allele num: 92506
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-41+17G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.278+27G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.365+27G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-41+27G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.278+27G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-41+27G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10354G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.278+27G>A
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10873
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12562
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4722
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12372
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3601
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3386
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2740
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

16-55907721-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907721
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907721
    reference: chr 16
allele count: 2
allele frequency: 2.128429431922184e-5
allele num: 93966
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.278+24G>C
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.278+24G>C
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.278+24G>C
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-41+14G>C
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.365+24G>C
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-41+24G>C
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-41+24G>C
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10357G>C
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9737
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12088
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3571
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2391
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

16-55907722-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907722
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907722
    reference: chr 16
allele count: 4123
allele frequency: 4.314837683404148e-2
allele num: 95554
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-41+13G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10358G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.278+23G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-41+23G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.278+23G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-41+23G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.365+23G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.278+23G>A
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 2.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 8466
  bin: 2.75e1
  variant carriers: 505
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.25e1
  variant carriers: 278
genotype depth: GenotypeDepth
  all individuals: 11184
  bin: 7.5e0
  variant carriers: 171
genotype depth: GenotypeDepth
  all individuals: 20934
  bin: 2.25e1
  variant carriers: 588
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.75e1
  variant carriers: 185
genotype depth: GenotypeDepth
  all individuals: 3231
  bin: 3.25e1
  variant carriers: 455
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.25e1
  variant carriers: 147
genotype depth: GenotypeDepth
  all individuals: 9177
  bin: 1.25e1
  variant carriers: 531
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 3.75e1
  variant carriers: 360
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.75e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 1.75e1
  variant carriers: 698
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 4.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 8.25e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 2984
  bin: 2.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 7.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 1.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 5.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 7.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 3290
  bin: 6.75e1
  variant carriers: 21
num of homozygotes: 110
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

16-55907723-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907723
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907723
    reference: chr 16
allele count: 13
allele frequency: 1.341118699321188e-4
allele num: 96934
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-41+22C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10359C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-41+22C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.278+22C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.365+22C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-41+12C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.278+22C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.278+22C>T
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22654
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10920
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8257
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9349
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2002
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2899
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

16-55907726-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907726
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907726
    reference: chr 16
allele count: 1
allele frequency: 1.015042936316206e-5
allele num: 98518
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10362C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.365+19C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-41+19C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-41+9C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.278+19C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-41+19C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.278+19C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.278+19C>T
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9598
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3995
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

16-55907730-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907730
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907730
    reference: chr 16
allele count: 5
allele frequency: 4.950495049504951e-5
allele num: 101000
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.278+15G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10366G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-41+15G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.278+15G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.365+15G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.278+15G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-41+5G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-41+15G>A
  variant of: http://identifiers.org/hgnc/26459
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10095
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5811
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2414
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2134
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 3.75e1
  variant carriers: 0
hgvs: c.-41+5G>A
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

16-55907731-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907731
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907731
    reference: chr 16
allele count: 5
allele frequency: 4.897831240326783e-5
allele num: 102086
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.278+14C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.278+14C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-41+14C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-41+14C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.278+14C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-41+4C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.365+14C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10367C>T
  variant of: http://identifiers.org/hgnc/26459
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10247
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8697
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1280
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 5.25e1
  variant carriers: 0
hgvs: c.-41+4C>T
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/16-55907733-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907733
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907733
    reference: chr 16
allele count: 4
allele frequency: 3.856611195742301e-5
allele num: 103718
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.278+12T>G
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-41+12T>G
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-41+2T>G
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.278+12T>G
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.278+12T>G
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10369T>G
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.365+12T>G
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-41+12T>G
  variant of: http://identifiers.org/hgnc/26459
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10398
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8073
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4584
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29204
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2429
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 8278
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 5.25e1
  variant carriers: 0
hgvs: c.-41+2T>G
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/16-55907734-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907734
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907734
    reference: chr 16
allele count: 1
allele frequency: 9.586992368754074e-6
allele num: 104308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.278+11G>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-41+1G>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-41+11G>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.278+11G>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.365+11G>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.278+11G>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10370G>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-41+11G>T
  variant of: http://identifiers.org/hgnc/26459
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7768
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10516
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29720
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1795
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8002
  bin: 2.25e1
  variant carriers: 0
hgvs: c.-41+1G>T
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/16-55907745-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907745
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907745
    reference: chr 16
allele count: 1
allele frequency: 9.097028910357877e-6
allele num: 109926
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10381T>G
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.278T>G
  hgvsp: ENSP00000324271.9:p.Leu93Trp
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-51T>G
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.365T>G
  hgvsp: ENSP00000428864.1:p.Leu122Trp
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-41T>G
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.278T>G
  hgvsp: ENSP00000290567.9:p.Leu93Trp
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-41T>G
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.278T>G
  hgvsp: ENSP00000428887.1:p.Leu93Trp
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu122Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

16-55907760-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907760
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907760
    reference: chr 16
allele count: 64
allele frequency: 5.596949662433974e-4
allele num: 114348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.263C>A
  hgvsp: ENSP00000290567.9:p.Thr88Asn
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-56C>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.350C>A
  hgvsp: ENSP00000428864.1:p.Thr117Asn
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-66C>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.263C>A
  hgvsp: ENSP00000324271.9:p.Thr88Asn
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.263C>A
  hgvsp: ENSP00000428887.1:p.Thr88Asn
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-56C>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10396C>A
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3199
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12556
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 35536
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3405
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr117Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

16-55907761-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907761
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907760
    reference: chr 16
allele count: 2
allele frequency: 1.746663872004471e-5
allele num: 114504
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10398delC
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.261delC
  hgvsp: ENSP00000324271.9:p.Thr88ProfsTer16
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-58delC
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.261delC
  hgvsp: ENSP00000428887.1:p.Thr88ProfsTer16
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.348delC
  hgvsp: ENSP00000428864.1:p.Thr117ProfsTer16
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.261delC
  hgvsp: ENSP00000290567.9:p.Thr88ProfsTer16
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-68delC
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-58delC
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12690
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35512
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3322
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2458
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 40683
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr117ProfsTer16
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: TG
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

16-55907767-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907767
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907767
    reference: chr 16
allele count: 1
allele frequency: 8.670319761392799e-6
allele num: 115336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-63G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-63G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10403G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.256G>A
  hgvsp: ENSP00000324271.9:p.Glu86Lys
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.256G>A
  hgvsp: ENSP00000428887.1:p.Glu86Lys
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-73G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.256G>A
  hgvsp: ENSP00000290567.9:p.Glu86Lys
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.343G>A
  hgvsp: ENSP00000428864.1:p.Glu115Lys
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13086
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2461
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41282
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2958
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1618
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu115Lys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
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: VQSLOD
site quality: ReadPosRankSum

16-55907769-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907769
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907769
    reference: chr 16
allele count: 4
allele frequency: 3.461884650003462e-5
allele num: 115544
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-75G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-65G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.341G>A
  hgvsp: ENSP00000428864.1:p.Arg114Gln
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-65G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.254G>A
  hgvsp: ENSP00000428887.1:p.Arg85Gln
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.254G>A
  hgvsp: ENSP00000324271.9:p.Arg85Gln
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.254G>A
  hgvsp: ENSP00000290567.9:p.Arg85Gln
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10405G>A
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4099
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5527
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg114Gln
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

16-55907770-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907770
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907770
    reference: chr 16
allele count: 3
allele frequency: 2.591658315767649e-5
allele num: 115756
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-66C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.253C>T
  hgvsp: ENSP00000290567.9:p.Arg85Ter
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.253C>T
  hgvsp: ENSP00000324271.9:p.Arg85Ter
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.253C>T
  hgvsp: ENSP00000428887.1:p.Arg85Ter
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-76C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.340C>T
  hgvsp: ENSP00000428864.1:p.Arg114Ter
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-66C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10406C>T
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4131
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35611
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13356
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41492
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1851
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5569
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg114Ter
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

16-55907779-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907779
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907779
    reference: chr 16
allele count: 6
allele frequency: 5.141740650601584e-5
allele num: 116692
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.244G>A
  hgvsp: ENSP00000290567.9:p.Asp82Asn
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.244G>A
  hgvsp: ENSP00000324271.9:p.Asp82Asn
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.331G>A
  hgvsp: ENSP00000428864.1:p.Asp111Asn
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-75G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-75G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-85G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.244G>A
  hgvsp: ENSP00000428887.1:p.Asp82Asn
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10415G>A
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35953
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp111Asn
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

16-55907782-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907782
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907782
    reference: chr 16
allele count: 1
allele frequency: 8.55549091406865e-6
allele num: 116884
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.241T>C
  hgvsp: ENSP00000324271.9:p.Trp81Arg
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-78T>C
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.241T>C
  hgvsp: ENSP00000428887.1:p.Trp81Arg
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.328T>C
  hgvsp: ENSP00000428864.1:p.Trp110Arg
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.241T>C
  hgvsp: ENSP00000290567.9:p.Trp81Arg
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10418T>C
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-88T>C
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-78T>C
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41845
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2283
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1907
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Trp110Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

16-55907784-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907784
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907784
    reference: chr 16
allele count: 1
allele frequency: 8.549493015064207e-6
allele num: 116966
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-80C>G
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-90C>G
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-80C>G
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.239C>G
  hgvsp: ENSP00000428887.1:p.Pro80Arg
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.239C>G
  hgvsp: ENSP00000324271.9:p.Pro80Arg
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10420C>G
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.239C>G
  hgvsp: ENSP00000290567.9:p.Pro80Arg
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.326C>G
  hgvsp: ENSP00000428864.1:p.Pro109Arg
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2025
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2265
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1686
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro109Arg
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

16-55907786-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907786
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907786
    reference: chr 16
allele count: 3
allele frequency: 2.562744528540432e-5
allele num: 117062
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.237G>A
  hgvsp: ENST00000520435.1:c.237G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-92G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-82G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.237G>A
  hgvsp: ENST00000319165.9:c.237G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.324G>A
  hgvsp: ENST00000521992.1:c.324G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-82G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.237G>A
  hgvsp: ENST00000290567.9:c.237G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10422G>A
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35657
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2239
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser108Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

16-55907787-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907787
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907787
    reference: chr 16
allele count: 13
allele frequency: 1.109858962537991e-4
allele num: 117132
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-93C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.236C>T
  hgvsp: ENSP00000428887.1:p.Ser79Leu
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.236C>T
  hgvsp: ENSP00000324271.9:p.Ser79Leu
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10423C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.323C>T
  hgvsp: ENSP00000428864.1:p.Ser108Leu
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-83C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.236C>T
  hgvsp: ENSP00000290567.9:p.Ser79Leu
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-83C>T
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35567
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14004
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4308
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2223
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser108Leu
num of homozygotes: 1
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

16-55907787-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907787
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907787
    reference: chr 16
allele count: 1
allele frequency: 8.537376634907625e-6
allele num: 117132
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.236C>G
  hgvsp: ENSP00000324271.9:p.Ser79Trp
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-83C>G
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-93C>G
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.323C>G
  hgvsp: ENSP00000428864.1:p.Ser108Trp
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.236C>G
  hgvsp: ENSP00000428887.1:p.Ser79Trp
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-83C>G
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10423C>G
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.236C>G
  hgvsp: ENSP00000290567.9:p.Ser79Trp
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14004
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4308
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser108Trp
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

16-55907790-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907790
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907790
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 117234
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.233C>T
  hgvsp: ENSP00000324271.9:p.Ala78Val
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.320C>T
  hgvsp: ENSP00000428864.1:p.Ala107Val
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10426C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-86C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.233C>T
  hgvsp: ENSP00000428887.1:p.Ala78Val
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-86C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.233C>T
  hgvsp: ENSP00000290567.9:p.Ala78Val
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-96C>T
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35393
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41746
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala107Val
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/16-55907791-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907791
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907791
    reference: chr 16
allele count: 1
allele frequency: 8.529948649709128e-6
allele num: 117234
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-97G>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-87G>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.232G>T
  hgvsp: ENSP00000290567.9:p.Ala78Ser
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.232G>T
  hgvsp: ENSP00000428887.1:p.Ala78Ser
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-87G>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.232G>T
  hgvsp: ENSP00000324271.9:p.Ala78Ser
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10427G>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.319G>T
  hgvsp: ENSP00000428864.1:p.Ala107Ser
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4363
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35303
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14134
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1685
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41819
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5724
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala107Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

16-55907796-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907796
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907796
    reference: chr 16
allele count: 1
allele frequency: 8.519338899301415e-6
allele num: 117380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-92A>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.227A>T
  hgvsp: ENSP00000290567.9:p.Gln76Leu
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.227A>T
  hgvsp: ENSP00000428887.1:p.Gln76Leu
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-92A>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.314A>T
  hgvsp: ENSP00000428864.1:p.Gln105Leu
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10432A>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-102A>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.227A>T
  hgvsp: ENSP00000324271.9:p.Gln76Leu
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41358
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5771
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2182
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1706
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln105Leu
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

16-55907799-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907799
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907799
    reference: chr 16
allele count: 214
allele frequency: 1.822020910669891e-3
allele num: 117452
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-95C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.224C>T
  hgvsp: ENSP00000290567.9:p.Pro75Leu
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.224C>T
  hgvsp: ENSP00000324271.9:p.Pro75Leu
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.224C>T
  hgvsp: ENSP00000428887.1:p.Pro75Leu
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-105C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10435C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-95C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.311C>T
  hgvsp: ENSP00000428864.1:p.Pro104Leu
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 3.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 34803
  bin: 2.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 3.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14326
  bin: 2.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro104Leu
num of homozygotes: 3
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

16-55907799-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907799
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907799
    reference: chr 16
allele count: 1
allele frequency: 8.514116404999489e-6
allele num: 117452
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-105C>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-95C>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.224C>A
  hgvsp: ENSP00000324271.9:p.Pro75Gln
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.224C>A
  hgvsp: ENSP00000428887.1:p.Pro75Gln
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.224C>A
  hgvsp: ENSP00000290567.9:p.Pro75Gln
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-95C>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.311C>A
  hgvsp: ENSP00000428864.1:p.Pro104Gln
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10435C>A
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14326
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2155
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro104Gln
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum

16-55907800-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907800
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907800
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 117506
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-106C>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.310C>A
  hgvsp: ENSP00000428864.1:p.Pro104Thr
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.223C>A
  hgvsp: ENSP00000428887.1:p.Pro75Thr
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10436C>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.223C>A
  hgvsp: ENSP00000324271.9:p.Pro75Thr
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.223C>A
  hgvsp: ENSP00000290567.9:p.Pro75Thr
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-96C>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-96C>A
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34844
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14384
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2153
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5775
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2510
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro104Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

16-55907801-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907801
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907801
    reference: chr 16
allele count: 2
allele frequency: 1.702475399230481e-5
allele num: 117476
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-97C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-97C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.222C>T
  hgvsp: ENST00000319165.9:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-107C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.309C>T
  hgvsp: ENST00000521992.1:c.309C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.222C>T
  hgvsp: ENST00000520435.1:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.222C>T
  hgvsp: ENST00000290567.9:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10437C>T
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn103Asn
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

16-55907804-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907804
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907804
    reference: chr 16
allele count: 4
allele frequency: 3.405936547402122e-5
allele num: 117442
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.306G>A
  hgvsp: ENST00000521992.1:c.306G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.219G>A
  hgvsp: ENST00000319165.9:c.219G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-100G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-110G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.219G>A
  hgvsp: ENST00000520435.1:c.219G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-100G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.219G>A
  hgvsp: ENST00000290567.9:c.219G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10440G>A
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4425
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14436
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5769
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1961
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2521
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr102Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

16-55907805-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907805
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907805
    reference: chr 16
allele count: 93
allele frequency: 7.920151249339988e-4
allele num: 117422
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-101C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.218C>T
  hgvsp: ENSP00000324271.9:p.Thr73Met
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-101C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10441C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.218C>T
  hgvsp: ENSP00000428887.1:p.Thr73Met
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.305C>T
  hgvsp: ENSP00000428864.1:p.Thr102Met
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.218C>T
  hgvsp: ENSP00000290567.9:p.Thr73Met
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-111C>T
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 34464
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 14443
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2230
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2601
  bin: 9.75e1
  variant carriers: 89
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40684
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr102Met
num of homozygotes: 2
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

16-55907811-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907811
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907811
    reference: chr 16
allele count: 24054
allele frequency: 2.038578232791498e-1
allele num: 117994
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.299G>A
  hgvsp: ENSP00000428864.1:p.Arg100Gln
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.212G>A
  hgvsp: ENSP00000428887.1:p.Arg71Gln
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-107G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-107G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.212G>A
  hgvsp: ENSP00000324271.9:p.Arg71Gln
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.212G>A
  hgvsp: ENSP00000290567.9:p.Arg71Gln
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-117G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10447G>A
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 7.25e1
  variant carriers: 828
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 9.75e1
  variant carriers: 2156
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 1.75e1
  variant carriers: 764
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.25e1
  variant carriers: 669
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 1.25e1
  variant carriers: 335
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 4.75e1
  variant carriers: 1360
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 3.25e1
  variant carriers: 2004
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 7.75e1
  variant carriers: 801
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 3.75e1
  variant carriers: 1740
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 7.5e0
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 6.75e1
  variant carriers: 1033
genotype depth: GenotypeDepth
  all individuals: 12402
  bin: 2.75e1
  variant carriers: 1970
genotype depth: GenotypeDepth
  all individuals: 24466
  bin: 2.25e1
  variant carriers: 1396
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 5.25e1
  variant carriers: 1340
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 9.25e1
  variant carriers: 512
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 6.25e1
  variant carriers: 1078
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 4.25e1
  variant carriers: 1578
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 5.75e1
  variant carriers: 1223
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.75e1
  variant carriers: 574
genotype quality: GenotypeQuality
  all individuals: 1749
  bin: 2.25e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 30012
  bin: 6.25e1
  variant carriers: 95
genotype quality: GenotypeQuality
  all individuals: 20666
  bin: 9.75e1
  variant carriers: 20403
genotype quality: GenotypeQuality
  all individuals: 3305
  bin: 6.75e1
  variant carriers: 82
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 3.75e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.5e0
  variant carriers: 7
hgvs: p.Arg100Gln
num of homozygotes: 2730
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

16-55907812-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907812
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907812
    reference: chr 16
allele count: 3
allele frequency: 2.553582676495123e-5
allele num: 117482
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.211C>T
  hgvsp: ENSP00000324271.9:p.Arg71Ter
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.298C>T
  hgvsp: ENSP00000428864.1:p.Arg100Ter
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.211C>T
  hgvsp: ENSP00000428887.1:p.Arg71Ter
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-108C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-108C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.211C>T
  hgvsp: ENSP00000290567.9:p.Arg71Ter
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-118C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10448C>T
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20817
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6272
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44494
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg100Ter
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

16-55907819-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907819
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907819
    reference: chr 16
allele count: 4
allele frequency: 3.411630247513775e-5
allele num: 117246
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.291A>T
  hgvsp: ENST00000521992.1:c.291A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.204A>T
  hgvsp: ENST00000290567.9:c.204A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.204A>T
  hgvsp: ENST00000520435.1:c.204A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.204A>T
  hgvsp: ENST00000319165.9:c.204A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10455A>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-115A>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-115A>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-125A>T
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28767
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1461
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly97Gly
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: T
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

16-55907823-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907823
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907823
    reference: chr 16
allele count: 3
allele frequency: 2.562087930857787e-5
allele num: 117092
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.200T>A
  hgvsp: ENSP00000290567.9:p.Leu67Gln
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.200T>A
  hgvsp: ENSP00000324271.9:p.Leu67Gln
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-119T>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.287T>A
  hgvsp: ENSP00000428864.1:p.Leu96Gln
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-119T>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.200T>A
  hgvsp: ENSP00000428887.1:p.Leu67Gln
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10459T>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-129T>A
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28672
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5067
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20552
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2960
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu96Gln
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

16-55907824-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907824
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907824
    reference: chr 16
allele count: 3
allele frequency: 2.562262990673363e-5
allele num: 117084
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-120C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-120C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.199C>T
  hgvsp: ENST00000319165.9:c.199C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.199C>T
  hgvsp: ENST00000290567.9:c.199C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10460C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.199C>T
  hgvsp: ENST00000520435.1:c.199C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-130C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.286C>T
  hgvsp: ENST00000521992.1:c.286C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5051
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20572
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1439
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu96Leu
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/16-55907825-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907825
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907825
    reference: chr 16
allele count: 10
allele frequency: 8.551393877201984e-5
allele num: 116940
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10461G>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.198G>T
  hgvsp: ENST00000520435.1:c.198G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-121G>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-121G>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.198G>T
  hgvsp: ENST00000290567.9:c.198G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.198G>T
  hgvsp: ENST00000319165.9:c.198G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-131G>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.285G>T
  hgvsp: ENST00000521992.1:c.285G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20566
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 3004
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro95Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

16-55907825-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907825
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907825
    reference: chr 16
allele count: 31
allele frequency: 2.650932101932615e-4
allele num: 116940
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.198G>A
  hgvsp: ENST00000520435.1:c.198G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.285G>A
  hgvsp: ENST00000521992.1:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10461G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-121G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.198G>A
  hgvsp: ENST00000319165.9:c.198G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.198G>A
  hgvsp: ENST00000290567.9:c.198G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-131G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-121G>A
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28554
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5106
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20566
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro95Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD

16-55907826-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907826
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907826
    reference: chr 16
allele count: 30
allele frequency: 2.565813106173346e-4
allele num: 116922
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.284C>T
  hgvsp: ENSP00000428864.1:p.Pro95Leu
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10462C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-122C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-132C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.197C>T
  hgvsp: ENSP00000428887.1:p.Pro66Leu
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.197C>T
  hgvsp: ENSP00000290567.9:p.Pro66Leu
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.197C>T
  hgvsp: ENSP00000324271.9:p.Pro66Leu
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-122C>T
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5033
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28619
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6013
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1432
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44273
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3068
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro95Leu
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

16-55907826-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907826
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907826
    reference: chr 16
allele count: 2
allele frequency: 1.710542070782231e-5
allele num: 116922
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.284C>G
  hgvsp: ENSP00000428864.1:p.Pro95Arg
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.197C>G
  hgvsp: ENSP00000290567.9:p.Pro66Arg
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-122C>G
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10462C>G
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.197C>G
  hgvsp: ENSP00000428887.1:p.Pro66Arg
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-122C>G
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-132C>G
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.197C>G
  hgvsp: ENSP00000324271.9:p.Pro66Arg
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5033
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3068
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro95Arg
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

16-55907827-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907827
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907827
    reference: chr 16
allele count: 1
allele frequency: 8.553149269561053e-6
allele num: 116916
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.196C>T
  hgvsp: ENSP00000428887.1:p.Pro66Ser
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-123C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.283C>T
  hgvsp: ENSP00000428864.1:p.Pro95Ser
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-123C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10463C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.196C>T
  hgvsp: ENSP00000324271.9:p.Pro66Ser
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.196C>T
  hgvsp: ENSP00000290567.9:p.Pro66Ser
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-133C>T
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20592
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4989
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro95Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

16-55907842-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907842
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907842
    reference: chr 16
allele count: 1
allele frequency: 8.699737267934509e-6
allele num: 114946
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.181C>T
  hgvsp: ENSP00000290567.9:p.Pro61Ser
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.268C>T
  hgvsp: ENSP00000428864.1:p.Pro90Ser
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.181C>T
  hgvsp: ENSP00000428887.1:p.Pro61Ser
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.181C>T
  hgvsp: ENSP00000324271.9:p.Pro61Ser
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-138C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-138C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10478C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-148C>T
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26947
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41251
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro90Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD

16-55907843-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907843
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907843
    reference: chr 16
allele count: 1
allele frequency: 8.700948403375968e-6
allele num: 114930
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.180C>T
  hgvsp: ENST00000290567.9:c.180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.180C>T
  hgvsp: ENST00000520435.1:c.180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10479C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-149C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-139C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.180C>T
  hgvsp: ENST00000319165.9:c.180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.267C>T
  hgvsp: ENST00000521992.1:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-139C>T
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4753
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26981
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4833
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val89Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

16-55907843-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907843
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907843
    reference: chr 16
allele count: 24
allele frequency: 2.088227616810232e-4
allele num: 114930
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10479C>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.180C>A
  hgvsp: ENST00000319165.9:c.180C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.180C>A
  hgvsp: ENST00000520435.1:c.180C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.180C>A
  hgvsp: ENST00000290567.9:c.180C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-149C>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-139C>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-139C>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.267C>A
  hgvsp: ENST00000521992.1:c.267C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4753
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26981
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 19940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5633
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val89Val
num of homozygotes: 1
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

16-55907845-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907845
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907845
    reference: chr 16
allele count: 1
allele frequency: 8.718851901581599e-6
allele num: 114694
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.178G>A
  hgvsp: ENSP00000428887.1:p.Val60Ile
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-141G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-151G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.178G>A
  hgvsp: ENSP00000324271.9:p.Val60Ile
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.265G>A
  hgvsp: ENSP00000428864.1:p.Val89Ile
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-141G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.178G>A
  hgvsp: ENSP00000290567.9:p.Val60Ile
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10481G>A
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4714
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val89Ile
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/16-55907848-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907848
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907848
    reference: chr 16
allele count: 3
allele frequency: 2.628673571315914e-5
allele num: 114126
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.175G>T
  hgvsp: ENSP00000428887.1:p.Gly59Ter
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-144G>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.262G>T
  hgvsp: ENSP00000428864.1:p.Gly88Ter
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-144G>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.175G>T
  hgvsp: ENSP00000324271.9:p.Gly59Ter
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.175G>T
  hgvsp: ENSP00000290567.9:p.Gly59Ter
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10484G>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-154G>T
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19564
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40684
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly88Ter
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

16-55907848-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907848
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907848
    reference: chr 16
allele count: 1
allele frequency: 8.762245237719714e-6
allele num: 114126
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-154G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.175G>A
  hgvsp: ENSP00000290567.9:p.Gly59Arg
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10484G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-144G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.175G>A
  hgvsp: ENSP00000324271.9:p.Gly59Arg
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.175G>A
  hgvsp: ENSP00000428887.1:p.Gly59Arg
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.262G>A
  hgvsp: ENSP00000428864.1:p.Gly88Arg
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-144G>A
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19564
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5359
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly88Arg
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

16-55907848-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907848
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907848
    reference: chr 16
allele count: 1
allele frequency: 8.762245237719714e-6
allele num: 114126
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.175G>C
  hgvsp: ENSP00000428887.1:p.Gly59Arg
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-154G>C
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.175G>C
  hgvsp: ENSP00000290567.9:p.Gly59Arg
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10484G>C
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.262G>C
  hgvsp: ENSP00000428864.1:p.Gly88Arg
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-144G>C
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.175G>C
  hgvsp: ENSP00000324271.9:p.Gly59Arg
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-144G>C
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19564
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40684
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5359
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly88Arg
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

16-55907849-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907849
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907849
    reference: chr 16
allele count: 19
allele frequency: 1.664564059433698e-4
allele num: 114144
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-145C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.174C>T
  hgvsp: ENST00000290567.9:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-145C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10485C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.174C>T
  hgvsp: ENST00000520435.1:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.261C>T
  hgvsp: ENST00000521992.1:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-155C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.174C>T
  hgvsp: ENST00000319165.9:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19558
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26827
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4621
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu87Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

16-55907851-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907851
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907851
    reference: chr 16
allele count: 14
allele frequency: 1.228716868527295e-4
allele num: 113940
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.172C>T
  hgvsp: ENSP00000290567.9:p.Leu58Phe
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-157C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.259C>T
  hgvsp: ENSP00000428864.1:p.Leu87Phe
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.172C>T
  hgvsp: ENSP00000428887.1:p.Leu58Phe
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10487C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-147C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.172C>T
  hgvsp: ENSP00000324271.9:p.Leu58Phe
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-147C>T
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3618
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19431
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4573
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26785
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5515
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5626
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu87Phe
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

16-55907855-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907855
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907855
    reference: chr 16
allele count: 2
allele frequency: 1.768221522792375e-5
allele num: 113108
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.168G>C
  hgvsp: ENST00000290567.9:c.168G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-151G>C
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.168G>C
  hgvsp: ENST00000319165.9:c.168G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.168G>C
  hgvsp: ENST00000520435.1:c.168G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-151G>C
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.255G>C
  hgvsp: ENST00000521992.1:c.255G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-161G>C
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10491G>C
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19101
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val85Val
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

16-55907855-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907855
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907855
    reference: chr 16
allele count: 1
allele frequency: 8.841107613961877e-6
allele num: 113108
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.168G>A
  hgvsp: ENST00000290567.9:c.168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.168G>A
  hgvsp: ENST00000520435.1:c.168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-151G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.168G>A
  hgvsp: ENST00000319165.9:c.168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10491G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.255G>A
  hgvsp: ENST00000521992.1:c.255G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-151G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-161G>A
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5452
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6258
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val85Val
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-55907857-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907857
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907857
    reference: chr 16
allele count: 156
allele frequency: 1.387085874842175e-3
allele num: 112466
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-153G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.166G>A
  hgvsp: ENSP00000428887.1:p.Val56Met
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.166G>A
  hgvsp: ENSP00000290567.9:p.Val56Met
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-153G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10493G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.253G>A
  hgvsp: ENSP00000428864.1:p.Val85Met
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-163G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.166G>A
  hgvsp: ENSP00000324271.9:p.Val56Met
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18820
  bin: 2.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 4316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 3.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 25763
  bin: 2.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val85Met
num of homozygotes: 1
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

16-55907858-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907858
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907858
    reference: chr 16
allele count: 2
allele frequency: 1.779106177056647e-5
allele num: 112416
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-164C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10494C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-154C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.165C>T
  hgvsp: ENST00000319165.9:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.252C>T
  hgvsp: ENST00000521992.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.165C>T
  hgvsp: ENST00000520435.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-154C>T
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.165C>T
  hgvsp: ENST00000290567.9:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4344
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3957
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40033
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6824
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asn84Asn
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP

16-55907863-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907863
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907863
    reference: chr 16
allele count: 1
allele frequency: 8.990541949868737e-6
allele num: 111228
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.247G>A
  hgvsp: ENSP00000428864.1:p.Val83Met
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-169G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.160G>A
  hgvsp: ENSP00000324271.9:p.Val54Met
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10499G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.160G>A
  hgvsp: ENSP00000290567.9:p.Val54Met
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-159G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.160G>A
  hgvsp: ENSP00000428887.1:p.Val54Met
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-159G>A
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4925
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4560
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18392
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5165
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val83Met
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

16-55907873-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907873
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907873
    reference: chr 16
allele count: 1
allele frequency: 9.256002517632684e-6
allele num: 108038
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10509C>G
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-169C>G
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.237C>G
  hgvsp: ENSP00000428864.1:p.Ser79Arg
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.150C>G
  hgvsp: ENSP00000324271.9:p.Ser50Arg
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.150C>G
  hgvsp: ENSP00000428887.1:p.Ser50Arg
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-169C>G
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-179C>G
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.150C>G
  hgvsp: ENSP00000290567.9:p.Ser50Arg
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5765
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6414
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35815
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser79Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

16-55907874-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55907874
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 55907874
    reference: chr 16
allele count: 1
allele frequency: 9.300076260625336e-6
allele num: 107526
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428571
  ensembl transcript: ENST00000518005
  gene symbol: CES5A
  hgvsc: ENST00000518005.1:c.-180G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000290567
  ensembl transcript: ENST00000290567
  gene symbol: CES5A
  hgvsc: ENST00000290567.9:c.149G>A
  hgvsp: ENSP00000290567.9:p.Ser50Asn
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000439810
  ensembl transcript: ENST00000536025
  gene symbol: CES5A
  hgvsc: ENST00000536025.1:c.-170G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000461804
  ensembl transcript: ENST00000521228
  gene symbol: CES5A
  hgvsc: ENST00000521228.2:c.-170G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159398
  ensembl transcript: ENST00000541580
  gene symbol: CES5A
  hgvsc: ENST00000541580.1:n.418-10510G>A
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428887
  ensembl transcript: ENST00000520435
  gene symbol: CES5A
  hgvsc: ENST00000520435.1:c.149G>A
  hgvsp: ENSP00000428887.1:p.Ser50Asn
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000324271
  ensembl transcript: ENST00000319165
  gene symbol: CES5A
  hgvsc: ENST00000319165.9:c.149G>A
  hgvsp: ENSP00000324271.9:p.Ser50Asn
  variant of: http://identifiers.org/hgnc/26459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159398
  ensembl protein: ENSP00000428864
  ensembl transcript: ENST00000521992
  gene symbol: CES5A
  hgvsc: ENST00000521992.1:c.236G>A
  hgvsp: ENSP00000428864.1:p.Ser79Asn
  variant of: http://identifiers.org/hgnc/26459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6640
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5980
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser79Asn
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 2525
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1538
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32448
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1022
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 194
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1901
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13312
bin: 7.5e0
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4124
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2158
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23380
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5454
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 6.459948320413437e-4
allele num: 3096
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 310
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.249e1

DP
type: SiteQuality
SIO_000300: 5.41677e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.38e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.95e-1

FS
type: SiteQuality
SIO_000300: 7.81e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.54e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.11e-1

GenotypeQuality
all individuals: 108
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2525
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 7.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23380
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 310
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3096
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.833516685001834e-4
allele num: 5454
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2158
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 7.274490785645005e-4
allele num: 4124
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3194
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.95e-1

QD
type: SiteQuality
SIO_000300: 1.249e1

VQSLOD
type: SiteQuality
SIO_000300: 2.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.81e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.54e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.38e-2

DP
type: SiteQuality
SIO_000300: 5.41677e5

GenotypeQuality
all individuals: 1849
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 218
bin: 9.75e1
variant carriers: 37

GenotypeQuality
all individuals: 64
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2506
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13386
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 85
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 105
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 50
bin: 9.25e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4130
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 8.541168431841476e-5
allele num: 23416
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.823486506199854e-4
allele num: 5484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2174
num of homozygotes: 0

East Asian
type: Population
allele count: 37
allele frequency: 1.200519143413368e-2
allele num: 3082
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3200
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 312
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.387e1

DP
type: SiteQuality
SIO_000300: 5.39251e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

FS
type: SiteQuality
SIO_000300: 3.121e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.81e-2

GenotypeQuality
all individuals: 2362
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1751
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 1

GenotypeQuality
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bin: 9.75e1
variant carriers: 16

GenotypeQuality
all individuals: 3114
bin: 1.75e1
variant carriers: 2

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 3.723008190618019e-4
allele num: 2686
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2806
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20898
num of homozygotes: 0

African
type: Population
allele count: 12
allele frequency: 3.157894736842105e-3
allele num: 3800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1934
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 282
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4778
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.9e-2

QD
type: SiteQuality
SIO_000300: 1.427e1

FS
type: SiteQuality
SIO_000300: 5.494e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.06934e5

BaseQRankSum
type: SiteQuality
SIO_000300: -4.7e-1

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

GenotypeQuality
all individuals: 850
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2039
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20026
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 81
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variant carriers: 0

GenotypeQuality
all individuals: 75
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 63
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variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1432
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2154
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 9.894459102902375e-4
allele num: 3032
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3466
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1808
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15974
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.91e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

QD
type: SiteQuality
SIO_000300: 1.323e1

MQRankSum
type: SiteQuality
SIO_000300: -3.36e-1

FS
type: SiteQuality
SIO_000300: 1.386e0

VQSLOD
type: SiteQuality
SIO_000300: 6.0e-2

DP
type: SiteQuality
SIO_000300: 4.50733e5

GenotypeQuality
all individuals: 24036
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 838
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1224
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1799
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 991
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 90
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 119
bin: 8.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3429
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2966
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15118
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1614
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 9.322560596643878e-4
allele num: 3218
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1374
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2010
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

DP
type: SiteQuality
SIO_000300: 4.4346e5

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.34e0

QD
type: SiteQuality
SIO_000300: 1.522e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.94e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

GenotypeQuality
all individuals: 124
bin: 9.25e1
variant carriers: 74

GenotypeQuality
all individuals: 3326
bin: 1.25e1
variant carriers: 13

GenotypeQuality
all individuals: 119
bin: 8.25e1
variant carriers: 57

GenotypeQuality
all individuals: 1799
bin: 2.75e1
variant carriers: 27

GenotypeQuality
all individuals: 90
bin: 7.25e1
variant carriers: 16

GenotypeQuality
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bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 87
bin: 5.75e1
variant carriers: 41

GenotypeQuality
all individuals: 97
bin: 4.25e1
variant carriers: 7

GenotypeQuality
all individuals: 118
bin: 7.75e1
variant carriers: 41

GenotypeQuality
all individuals: 107
bin: 8.75e1
variant carriers: 75

GenotypeQuality
all individuals: 838
bin: 6.25e1
variant carriers: 40

GenotypeQuality
all individuals: 205
bin: 6.75e1
variant carriers: 27

Latino
type: Population
allele count: 9
allele frequency: 5.576208178438661e-3
allele num: 1614
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 2.475247524752475e-2
allele num: 202
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 117
allele frequency: 8.51528384279476e-2
allele num: 1374
num of homozygotes: 3

East Asian
type: Population
allele count: 6
allele frequency: 2.985074626865672e-3
allele num: 2010
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 554
allele frequency: 3.664505887022093e-2
allele num: 15118
num of homozygotes: 8

African
type: Population
allele count: 14
allele frequency: 4.720161834120027e-3
allele num: 2966
num of homozygotes: 0

South Asian
type: Population
allele count: 31
allele frequency: 9.633312616532008e-3
allele num: 3218
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.94e-2

DP
type: SiteQuality
SIO_000300: 4.4346e5

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.522e1

GenotypeQuality
all individuals: 79
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1166
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3461
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1427
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 381
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variant carriers: 0

GenotypeQuality
all individuals: 22039
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variant carriers: 0

GenotypeQuality
all individuals: 74
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variant carriers: 0

GenotypeQuality
all individuals: 760
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variant carriers: 0

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

GenotypeQuality
all individuals: 23891
bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2760
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1920
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1458
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2942
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13686
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.046e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.495e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.78e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

DP
type: SiteQuality
SIO_000300: 4.2457e5

GenotypeQuality
all individuals: 971
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2718
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 34
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variant carriers: 1

GenotypeQuality
all individuals: 126
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 64
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variant carriers: 1

GenotypeQuality
all individuals: 397
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variant carriers: 0

GenotypeQuality
all individuals: 7120
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variant carriers: 0

GenotypeQuality
all individuals: 13442
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
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GenotypeQuality
all individuals: 49
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variant carriers: 1

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 9.75e1
variant carriers: 12

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2004
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 674
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 596
num of homozygotes: 0

East Asian
type: Population
allele count: 13
allele frequency: 1.173285198555957e-2
allele num: 1108
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 106
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8416
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1532
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-1

DP
type: SiteQuality
SIO_000300: 3.45437e5

FS
type: SiteQuality
SIO_000300: 4.959e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.18e-2

QD
type: SiteQuality
SIO_000300: 1.705e1

VQSLOD
type: SiteQuality
SIO_000300: -7.35e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1658
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6668
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 82
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 440
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 502
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.174311926605505e-4
allele num: 1090
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

QD
type: SiteQuality
SIO_000300: 1.321e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 3.3083e5

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.68e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.84e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7070
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.859150739941994e-5
allele num: 53788
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4770
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7314
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 590
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.020351e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.927e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.78e-1

QD
type: SiteQuality
SIO_000300: 1.413e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.545e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.979e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.866437716973385e-5
allele num: 53578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4790
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7016
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7268
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.030232e6

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

VQSLOD
type: SiteQuality
SIO_000300: -2.302e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.487e0

FS
type: SiteQuality
SIO_000300: 5.945e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-3

QD
type: SiteQuality
SIO_000300: 2.282e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.91e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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variant carriers: 2

GenotypeQuality
all individuals: 1836
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variant carriers: 0

GenotypeQuality
all individuals: 2056
bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54144
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7444
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4836
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.077870113881194e-4
allele num: 6498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7172
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

QD
type: SiteQuality
SIO_000300: 1.098e1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.432e0

MQRankSum
type: SiteQuality
SIO_000300: 5.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.88e-1

FS
type: SiteQuality
SIO_000300: 2.279e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.49e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.041473e6

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3059
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7766
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54692
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7338
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4882
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8750
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.234e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

MQRankSum
type: SiteQuality
SIO_000300: 1.67e0

MQ
type: SiteQuality
SIO_000300: 5.79e1

DP
type: SiteQuality
SIO_000300: 1.087709e6

QD
type: SiteQuality
SIO_000300: 1.585e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 519
bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55308
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7532
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6676
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.239464551313832e-4
allele num: 8068
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8808
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4954
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.96e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.19e-1

FS
type: SiteQuality
SIO_000300: 2.026e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.687e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

QD
type: SiteQuality
SIO_000300: 1.482e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.59e-1

DP
type: SiteQuality
SIO_000300: 1.120825e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.54e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8164
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.600230414746544e-5
allele num: 55552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5004
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8822
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6716
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.398e1

VQSLOD
type: SiteQuality
SIO_000300: 2.54e0

FS
type: SiteQuality
SIO_000300: 6.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e-1

DP
type: SiteQuality
SIO_000300: 1.140186e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.27e-1

GenotypeQuality
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variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7856
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5058
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8916
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.559225512528474e-5
allele num: 56192
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6806
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.1e-2

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

QD
type: SiteQuality
SIO_000300: 9.779999999999999e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.79e0

DP
type: SiteQuality
SIO_000300: 1.167348e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 532
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variant carriers: 43

GenotypeQuality
all individuals: 2085
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variant carriers: 10

GenotypeQuality
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GenotypeQuality
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variant carriers: 25

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
all individuals: 657
bin: 4.75e1
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GenotypeQuality
all individuals: 411
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variant carriers: 40

GenotypeQuality
all individuals: 23079
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GenotypeQuality
all individuals: 6021
bin: 9.75e1
variant carriers: 3874

African
type: Population
allele count: 92
allele frequency: 1.027703306523682e-2
allele num: 8952
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.923121894182987e-4
allele num: 6842
num of homozygotes: 0

Latino
type: Population
allele count: 222
allele frequency: 2.75844930417495e-2
allele num: 8048
num of homozygotes: 5

European (Non-Finnish)
type: Population
allele count: 3141
allele frequency: 5.511106432256027e-2
allele num: 56994
num of homozygotes: 86

South Asian
type: Population
allele count: 409
allele frequency: 4.562695225345828e-2
allele num: 8964
num of homozygotes: 13

European (Finnish)
type: Population
allele count: 224
allele frequency: 4.381846635367762e-2
allele num: 5112
num of homozygotes: 5

Other
type: Population
allele count: 33
allele frequency: 5.14018691588785e-2
allele num: 642
num of homozygotes: 1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.82e-2

FS
type: SiteQuality
SIO_000300: 6.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

DP
type: SiteQuality
SIO_000300: 1.214812e6

VQSLOD
type: SiteQuality
SIO_000300: 4.3e0

QD
type: SiteQuality
SIO_000300: 1.509e1

GenotypeQuality
all individuals: 1363
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1191
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11105
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3509
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3884
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2415
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 926
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26294
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.218278615794144e-4
allele num: 9016
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.041377395168009e-4
allele num: 57616
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.234850118611171e-4
allele num: 9274
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5178
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.424242424242424e-4
allele num: 8250
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6932
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 668
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.208693e6

VQSLOD
type: SiteQuality
SIO_000300: 7.86e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.63e-1

FS
type: SiteQuality
SIO_000300: 8.391e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.96e0

QD
type: SiteQuality
SIO_000300: 1.19e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

GenotypeQuality
all individuals: 28229
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1232
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2982
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1687
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10461
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2409
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 947
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9100
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.71556013038257e-5
allele num: 58290
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5260
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 676
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9586
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7064
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.612e0

MQ
type: SiteQuality
SIO_000300: 5.801e1

FS
type: SiteQuality
SIO_000300: 2.306e0

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.24e-1

QD
type: SiteQuality
SIO_000300: 1.219e1

VQSLOD
type: SiteQuality
SIO_000300: -1.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.233981e6

GenotypeQuality
all individuals: 211
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1438
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 763
bin: 7.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2422
bin: 9.75e1
variant carriers: 4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4214
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9344
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.168256721595837e-4
allele num: 9224
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7270
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.964636542239686e-4
allele num: 10180
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.688333614722269e-5
allele num: 59230
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 694
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5382
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9020
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

QD
type: SiteQuality
SIO_000300: 3.005e1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e-1

FS
type: SiteQuality
SIO_000300: 2.656e0

MQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.03e-1

DP
type: SiteQuality
SIO_000300: 1.271542e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 8933
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1457
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variant carriers: 0

GenotypeQuality
all individuals: 1279
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variant carriers: 0

GenotypeQuality
all individuals: 101
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GenotypeQuality
all individuals: 455
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variant carriers: 0

GenotypeQuality
all individuals: 31885
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variant carriers: 0

GenotypeQuality
all individuals: 2423
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 176
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variant carriers: 0

GenotypeQuality
all individuals: 2186
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variant carriers: 0

GenotypeQuality
all individuals: 1974
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variant carriers: 0

GenotypeQuality
all individuals: 4318
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 702
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.358695652173913e-4
allele num: 7360
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5448
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.087902523933855e-4
allele num: 9192
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.032374945482605e-5
allele num: 59614
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.603e0

QD
type: SiteQuality
SIO_000300: 1.17e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

DP
type: SiteQuality
SIO_000300: 1.285895e6

MQRankSum
type: SiteQuality
SIO_000300: -4.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.65e-1

GenotypeQuality
all individuals: 1725
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1894
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variant carriers: 0

GenotypeQuality
all individuals: 1482
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variant carriers: 0

GenotypeQuality
all individuals: 4451
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variant carriers: 1

GenotypeQuality
all individuals: 586
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variant carriers: 0

GenotypeQuality
all individuals: 61
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variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 575
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GenotypeQuality
all individuals: 463
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1309
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33075
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5546
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60166
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9344
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 4.208754208754209e-4
allele num: 9504
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10942
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.82e-1

QD
type: SiteQuality
SIO_000300: 7.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e0

FS
type: SiteQuality
SIO_000300: 1.5894e1

MQRankSum
type: SiteQuality
SIO_000300: -6.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

DP
type: SiteQuality
SIO_000300: 1.30478e6

VQSLOD
type: SiteQuality
SIO_000300: -2.61e0

MQ
type: SiteQuality
SIO_000300: 5.916e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.1e-1

GenotypeQuality
all individuals: 74
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1061
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variant carriers: 0

GenotypeQuality
all individuals: 335
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2425
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variant carriers: 1

GenotypeQuality
all individuals: 600
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GenotypeQuality
all individuals: 115
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GenotypeQuality
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GenotypeQuality
all individuals: 1642
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GenotypeQuality
all individuals: 1317
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variant carriers: 0

GenotypeQuality
all individuals: 472
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variant carriers: 0

GenotypeQuality
all individuals: 1498
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9624
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11086
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.328727079457879e-4
allele num: 7526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5576
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.788e0

VQSLOD
type: SiteQuality
SIO_000300: 7.59e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.047e0

MQRankSum
type: SiteQuality
SIO_000300: -2.79e-1

DP
type: SiteQuality
SIO_000300: 1.313277e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.544e0

QD
type: SiteQuality
SIO_000300: 1.092e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.41e-1

GenotypeQuality
all individuals: 502
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1645
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 960
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4958
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GenotypeQuality
all individuals: 69
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variant carriers: 0

GenotypeQuality
all individuals: 448
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GenotypeQuality
all individuals: 480
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GenotypeQuality
all individuals: 419
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variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5441
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.601434885657549e-5
allele num: 62444
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5896
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9640
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12886
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7948
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 8.970000000000001e0

FS
type: SiteQuality
SIO_000300: 3.979e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.591e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

MQRankSum
type: SiteQuality
SIO_000300: -1.002e0

VQSLOD
type: SiteQuality
SIO_000300: -1.935e0

DP
type: SiteQuality
SIO_000300: 1.381395e6

MQ
type: SiteQuality
SIO_000300: 5.875e1

GenotypeQuality
all individuals: 178
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 5.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 65

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 600
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1772
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variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 32
allele frequency: 4.998281840617288e-4
allele num: 64022
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 32
allele frequency: 5.17464424320828e-3
allele num: 6184
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9866
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10958
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8258
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14242
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.620000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

DP
type: SiteQuality
SIO_000300: 1.434204e6

QD
type: SiteQuality
SIO_000300: 1.158e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.785e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1140
bin: 8.25e1
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GenotypeQuality
all individuals: 26
bin: 2.5e0
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GenotypeQuality
all individuals: 189
bin: 4.25e1
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GenotypeQuality
all individuals: 335
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GenotypeQuality
all individuals: 503
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GenotypeQuality
all individuals: 271
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GenotypeQuality
all individuals: 92
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GenotypeQuality
all individuals: 546
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GenotypeQuality
all individuals: 629
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GenotypeQuality
all individuals: 366
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GenotypeQuality
all individuals: 1773
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GenotypeQuality
all individuals: 1569
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GenotypeQuality
all individuals: 5382
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6194
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8274
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10984
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.025931928687196e-4
allele num: 9872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64088
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14272
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

FS
type: SiteQuality
SIO_000300: 1.058e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e-2

DP
type: SiteQuality
SIO_000300: 1.436244e6

VQSLOD
type: SiteQuality
SIO_000300: 2.25e0

QD
type: SiteQuality
SIO_000300: 1.068e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.48e-1

GenotypeQuality
all individuals: 273
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
all individuals: 512
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 3.75e1
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GenotypeQuality
all individuals: 251
bin: 7.5e0
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GenotypeQuality
all individuals: 168
bin: 4.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1839
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 5.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9922
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8336
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.554919766140067e-5
allele num: 64312
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11074
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.62e-1

QD
type: SiteQuality
SIO_000300: 1.483e1

DP
type: SiteQuality
SIO_000300: 1.448438e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.202e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

VQSLOD
type: SiteQuality
SIO_000300: 5.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.57e-1

GenotypeQuality
all individuals: 1187
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 634
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8364
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6260
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9932
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14670
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.999280057595392e-5
allele num: 11112
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.660266567247646e-5
allele num: 64374
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

DP
type: SiteQuality
SIO_000300: 1.45283e6

QD
type: SiteQuality
SIO_000300: 1.568e1

FS
type: SiteQuality
SIO_000300: 2.934e0

MQRankSum
type: SiteQuality
SIO_000300: 3.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.51e-1

GenotypeQuality
all individuals: 302
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 438
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1191
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.35593220338983e-4
allele num: 14750
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551590380139643e-5
allele num: 64450
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11120
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9946
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6278
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.456066e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

FS
type: SiteQuality
SIO_000300: 7.57e0

QD
type: SiteQuality
SIO_000300: 1.113e1

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.84e0

GenotypeQuality
all individuals: 5684
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 522
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GenotypeQuality
all individuals: 2354
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GenotypeQuality
all individuals: 2474
bin: 9.75e1
variant carriers: 6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 648
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1208
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.675567423230975e-5
allele num: 14980
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.57331655129012e-4
allele num: 6356
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11228
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10024
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.172267999876555e-5
allele num: 64806
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.2e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-2

QD
type: SiteQuality
SIO_000300: 1.004e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.8e-2

DP
type: SiteQuality
SIO_000300: 1.468005e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.3e-2

FS
type: SiteQuality
SIO_000300: 2.846e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.736e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

GenotypeQuality
all individuals: 283
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1679
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5676
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
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variant carriers: 0

GenotypeQuality
all individuals: 395
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GenotypeQuality
all individuals: 71
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variant carriers: 0

GenotypeQuality
all individuals: 366
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variant carriers: 0

GenotypeQuality
all individuals: 288
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 531
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variant carriers: 0

GenotypeQuality
all individuals: 2481
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1215
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10034
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6374
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15042
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11246
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.541212009123975e-5
allele num: 64884
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.47082e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-2

FS
type: SiteQuality
SIO_000300: 8.070000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.883e1

QD
type: SiteQuality
SIO_000300: 9.81e0

VQSLOD
type: SiteQuality
SIO_000300: -2.514e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.21e-1

GenotypeQuality
all individuals: 354
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
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GenotypeQuality
all individuals: 267
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 321
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GenotypeQuality
all individuals: 332
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GenotypeQuality
all individuals: 41942
bin: 6.25e1
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GenotypeQuality
all individuals: 259
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GenotypeQuality
all individuals: 1930
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GenotypeQuality
all individuals: 2484
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5700
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15078
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540594669542443e-5
allele num: 64910
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10040
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6376
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11256
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.900000000000001e-3

DP
type: SiteQuality
SIO_000300: 1.472338e6

QD
type: SiteQuality
SIO_000300: 1.048e1

FS
type: SiteQuality
SIO_000300: 7.552e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.958e1

GenotypeQuality
all individuals: 55
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 4.25e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 1682
bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 170
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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: 2486
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variant carriers: 3

GenotypeQuality
all individuals: 530
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8462
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.876264867743653e-5
allele num: 11266
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10050
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540120129370091e-5
allele num: 64930
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.613756613756614e-5
allele num: 15120
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6386
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.672e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.19e-1

MQ
type: SiteQuality
SIO_000300: 5.899e1

FS
type: SiteQuality
SIO_000300: 3.416e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.597e0

MQRankSum
type: SiteQuality
SIO_000300: -4.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.71e-1

DP
type: SiteQuality
SIO_000300: 1.474563e6

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

GenotypeQuality
all individuals: 59
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2500
bin: 9.75e1
variant carriers: 11

GenotypeQuality
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GenotypeQuality
all individuals: 314
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GenotypeQuality
all individuals: 162
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GenotypeQuality
all individuals: 256
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GenotypeQuality
all individuals: 1927
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GenotypeQuality
all individuals: 531
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GenotypeQuality
all individuals: 659
bin: 9.25e1
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GenotypeQuality
all individuals: 5710
bin: 6.75e1
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GenotypeQuality
all individuals: 199
bin: 5.75e1
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GenotypeQuality
all individuals: 42064
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.539266693347289e-5
allele num: 64966
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10062
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.773364071643909e-4
allele num: 11278
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 6.607638430025109e-4
allele num: 15134
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.23e-1

DP
type: SiteQuality
SIO_000300: 1.475324e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.19e-2

FS
type: SiteQuality
SIO_000300: 1.139e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.38e-1

MQ
type: SiteQuality
SIO_000300: 5.929e1

QD
type: SiteQuality
SIO_000300: 1.37e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.4e-1

GenotypeQuality
all individuals: 256
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42064
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 531
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GenotypeQuality
all individuals: 2223
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GenotypeQuality
all individuals: 42
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GenotypeQuality
all individuals: 2500
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GenotypeQuality
all individuals: 659
bin: 9.25e1
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GenotypeQuality
all individuals: 1927
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1681
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5710
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10062
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.539266693347289e-5
allele num: 64966
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15134
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.475324e6

QD
type: SiteQuality
SIO_000300: 1.37e1

FS
type: SiteQuality
SIO_000300: 1.139e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

MQ
type: SiteQuality
SIO_000300: 5.929e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.19e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.23e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.4e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 663
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1686
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10068
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15178
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11282
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65008
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.475782e6

VQSLOD
type: SiteQuality
SIO_000300: -2.238e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.449e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1934
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64998
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.936406995230525e-5
allele num: 10064
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8470
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6386
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11288
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15178
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.444e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.47735e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -3.273e0

FS
type: SiteQuality
SIO_000300: 1.192e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.59e0

MQRankSum
type: SiteQuality
SIO_000300: -5.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e-1

GenotypeQuality
all individuals: 1957
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 538
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variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10090
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6390
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537089981247502e-5
allele num: 65058
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11308
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15210
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.37e-1

FS
type: SiteQuality
SIO_000300: 1.716e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 1.478054e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.13e-1

QD
type: SiteQuality
SIO_000300: 1.043e1

GenotypeQuality
all individuals: 41284
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 2

GenotypeQuality
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bin: 9.75e1
variant carriers: 205

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1940
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variant carriers: 1

GenotypeQuality
all individuals: 1247
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.838607035531201e-5
allele num: 11314
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.176470588235294e-3
allele num: 850
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.609569466211856e-5
allele num: 65082
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10092
num of homozygotes: 0

East Asian
type: Population
allele count: 193
allele frequency: 2.273798303487276e-2
allele num: 8488
num of homozygotes: 3

South Asian
type: Population
allele count: 16
allele frequency: 1.050006562541016e-3
allele num: 15238
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.486752e6

QD
type: SiteQuality
SIO_000300: 1.277e1

VQSLOD
type: SiteQuality
SIO_000300: 6.39e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.71e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.07e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 76
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2673
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10092
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15238
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11314
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.536523155403952e-5
allele num: 65082
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

DP
type: SiteQuality
SIO_000300: 1.486752e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.71e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.07e-1

QD
type: SiteQuality
SIO_000300: 1.277e1

MQ
type: SiteQuality
SIO_000300: 5.978e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.2e-2

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 41446
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 8.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65112
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11312
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10104
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15256
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InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 6.109e0

DP
type: SiteQuality
SIO_000300: 1.48106e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.837e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.26e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.29e-1

QD
type: SiteQuality
SIO_000300: 1.523e1

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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: 384
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.178967224711153e-4
allele num: 8482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10100
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11308
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6386
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.536098310291859e-5
allele num: 65100
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.976e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.586e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.94e-1

FS
type: SiteQuality
SIO_000300: 5.08e-1

DP
type: SiteQuality
SIO_000300: 1.481368e6

MQRankSum
type: SiteQuality
SIO_000300: -1.274e0

QD
type: SiteQuality
SIO_000300: 1.151e1

VQSLOD
type: SiteQuality
SIO_000300: 2.47e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 40939
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.610136152687709e-5
allele num: 65074
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10104
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.557377049180328e-5
allele num: 15250
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11318
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: 852
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.62e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.067e0

MQRankSum
type: SiteQuality
SIO_000300: -1.3e-2

DP
type: SiteQuality
SIO_000300: 1.48201e6

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -9.3e-1

QD
type: SiteQuality
SIO_000300: 1.026e1

GenotypeQuality
all individuals: 1965
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variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 28
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 535
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GenotypeQuality
all individuals: 361
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GenotypeQuality
all individuals: 1252
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5745
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.176470588235294e-3
allele num: 850
num of homozygotes: 0

South Asian
type: Population
allele count: 86
allele frequency: 5.638604773144506e-3
allele num: 15252
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.609852792034174e-5
allele num: 65078
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10094
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.653458340704051e-4
allele num: 11306
num of homozygotes: 1

MQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.47e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.26e0

DP
type: SiteQuality
SIO_000300: 1.48577e6

QD
type: SiteQuality
SIO_000300: 1.318e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.24e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.04e-1

GenotypeQuality
all individuals: 290
bin: 2.75e1
variant carriers: 25

GenotypeQuality
all individuals: 190
bin: 9.25e1
variant carriers: 106

GenotypeQuality
all individuals: 102
bin: 7.5e0
variant carriers: 14

GenotypeQuality
all individuals: 448
bin: 5.25e1
variant carriers: 79

GenotypeQuality
all individuals: 345
bin: 3.25e1
variant carriers: 37

GenotypeQuality
all individuals: 266
bin: 4.25e1
variant carriers: 42

GenotypeQuality
all individuals: 152
bin: 8.75e1
variant carriers: 72

GenotypeQuality
all individuals: 800
bin: 7.25e1
variant carriers: 76

GenotypeQuality
all individuals: 373
bin: 4.75e1
variant carriers: 59

GenotypeQuality
all individuals: 305
bin: 5.75e1
variant carriers: 54

GenotypeQuality
all individuals: 373
bin: 8.25e1
variant carriers: 117

GenotypeQuality
all individuals: 97
bin: 1.75e1
variant carriers: 15

GenotypeQuality
all individuals: 735
bin: 7.75e1
variant carriers: 100

European (Finnish)
type: Population
allele count: 1028
allele frequency: 1.611790529946692e-1
allele num: 6378
num of homozygotes: 81

European (Non-Finnish)
type: Population
allele count: 10435
allele frequency: 1.599724053349686e-1
allele num: 65230
num of homozygotes: 822

East Asian
type: Population
allele count: 2499
allele frequency: 2.949020533396271e-1
allele num: 8474
num of homozygotes: 372

South Asian
type: Population
allele count: 3437
allele frequency: 2.214276510758923e-1
allele num: 15522
num of homozygotes: 395

Other
type: Population
allele count: 151
allele frequency: 1.768149882903981e-1
allele num: 854
num of homozygotes: 11

African
type: Population
allele count: 4118
allele frequency: 4.03488144228885e-1
allele num: 10206
num of homozygotes: 810

Latino
type: Population
allele count: 2386
allele frequency: 2.105913503971756e-1
allele num: 11330
num of homozygotes: 239

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.94e-2

DP
type: SiteQuality
SIO_000300: 2.077871e6

MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
type: SiteQuality
SIO_000300: 7.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.0e-2

QD
type: SiteQuality
SIO_000300: 1.57e1

GenotypeQuality
all individuals: 2455
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1541
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 662
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1525
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6338
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11316
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.181195369714151e-4
allele num: 8466
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10060
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535390756947643e-5
allele num: 65130
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.526563111865292e-5
allele num: 15322
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

DP
type: SiteQuality
SIO_000300: 1.470756e6

MQRankSum
type: SiteQuality
SIO_000300: 5.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
SIO_000300: 2.149e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.139999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.16e-1

QD
type: SiteQuality
SIO_000300: 1.326e1

GenotypeQuality
all individuals: 6105
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2759
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1497
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 250
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 196
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44411
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.61745844784714e-4
allele num: 15282
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8452
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6306
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11282
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10000
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65078
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.36e1

FS
type: SiteQuality
SIO_000300: 3.782e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
SIO_000300: 6.860000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.89e-1

DP
type: SiteQuality
SIO_000300: 1.464566e6

GenotypeQuality
all individuals: 1442
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6060
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44050
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1481
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 502
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.664771717889501e-4
allele num: 11258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65002
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9982
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6302
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15258
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e-1

QD
type: SiteQuality
SIO_000300: 1.331e1

VQSLOD
type: SiteQuality
SIO_000300: -1.912e0

DP
type: SiteQuality
SIO_000300: 1.459886e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.41e-1

FS
type: SiteQuality
SIO_000300: 1.403e1

MQRankSum
type: SiteQuality
SIO_000300: -4.88e-1

MQ
type: SiteQuality
SIO_000300: 5.645e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.526e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

GenotypeQuality
all individuals: 466
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2974
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44227
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1480
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6050
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.665245202558635e-4
allele num: 11256
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9982
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64996
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6302
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15258
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.343e1

MQ
type: SiteQuality
SIO_000300: 5.625e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.335e0

MQRankSum
type: SiteQuality
SIO_000300: -4.55e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.45e0

FS
type: SiteQuality
SIO_000300: 1.0663e1

DP
type: SiteQuality
SIO_000300: 1.459936e6

GenotypeQuality
all individuals: 594
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5979
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1441
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 361
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43973
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1394
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 6
allele frequency: 6.014434643143544e-4
allele num: 9976
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6290
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11244
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.572893387669252e-5
allele num: 15214
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.619933472957989e-5
allele num: 64936
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.02e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.37e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.222e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.460827e6

GenotypeQuality
all individuals: 43973
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3004
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5979
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 525
bin: 9.75e1
variant carriers: 31

GenotypeQuality
all individuals: 495
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1394
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.53997782431933e-5
allele num: 64936
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11244
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9976
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6290
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.31457867753385e-4
allele num: 15214
num of homozygotes: 0

East Asian
type: Population
allele count: 28
allele frequency: 3.319895660422101e-3
allele num: 8434
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.02e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.75e-1

DP
type: SiteQuality
SIO_000300: 1.460827e6

MQRankSum
type: SiteQuality
SIO_000300: 1.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.222e1

GenotypeQuality
all individuals: 279
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 47
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1389
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 504
bin: 9.75e1
variant carriers: 28

African
type: Population
allele count: 27
allele frequency: 2.707038299578905e-3
allele num: 9974
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11234
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15214
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.080335140463283e-5
allele num: 64928
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6288
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.48e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.945e1

DP
type: SiteQuality
SIO_000300: 1.459102e6

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.14e-1

QD
type: SiteQuality
SIO_000300: 1.392e1

GenotypeQuality
all individuals: 279
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1432
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9974
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15214
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8436
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11234
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6288
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.080335140463283e-5
allele num: 64928
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.14e-1

QD
type: SiteQuality
SIO_000300: 1.392e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.8e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.459102e6

VQSLOD
type: SiteQuality
SIO_000300: 4.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.945e1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.34e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9976
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6280
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64940
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11230
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15204
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.185114956150747e-4
allele num: 8438
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.42e-1

ClippingRankSum
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FS
type: SiteQuality
SIO_000300: 0.0e0

DP
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ReadPosRankSum
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SIO_000300: -7.01e-1

MQ
type: SiteQuality
SIO_000300: 5.933e1

BaseQRankSum
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SIO_000300: -2.061e0

MQRankSum
type: SiteQuality
SIO_000300: -2.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
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SIO_000300: 1.482e1

GenotypeQuality
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variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64092
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10952
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8260
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.017293997965412e-4
allele num: 9830
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14900
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6082
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

DP
type: SiteQuality
SIO_000300: 1.422323e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.589e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.71e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.87e-1

FS
type: SiteQuality
SIO_000300: 1.761e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.304e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64084
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6082
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8258
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 9.137426900584795e-5
allele num: 10944
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14904
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9828
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.422482e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 3.7e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.781e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.23e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.61e-1

QD
type: SiteQuality
SIO_000300: 1.179e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 22

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14904
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10944
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 22
allele frequency: 3.432994195118906e-4
allele num: 64084
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6082
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African
type: Population
allele count: 2
allele frequency: 2.035002035002035e-4
allele num: 9828
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.23e-2

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.118e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-1

DP
type: SiteQuality
SIO_000300: 1.422482e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

QD
type: SiteQuality
SIO_000300: 1.179e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.781e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.61e-1

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10912
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.56328164082041e-5
allele num: 63968
num of homozygotes: 0

South Asian
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6064
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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DP
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.707359171504786e-5
allele num: 63730
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6032
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
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QD
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DP
type: SiteQuality
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ReadPosRankSum
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
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allele num: 824
num of homozygotes: 0

African
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East Asian
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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Latino
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South Asian
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allele frequency: 6.76132521974307e-5
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FS
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
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MQRankSum
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DP
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QD
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

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

European (Non-Finnish)
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allele num: 63730
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South Asian
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Other
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MQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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FS
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BaseQRankSum
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VQSLOD
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MQ
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ClippingRankSum
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DP
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GenotypeQuality
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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
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bin: 2.5e0
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 8.75e1
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GenotypeQuality
all individuals: 5518
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5391
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1323
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6032
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14804
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10778
num of homozygotes: 0

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

African
type: Population
allele count: 3
allele frequency: 3.070624360286592e-4
allele num: 9770
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.51004016064257e-4
allele num: 63744
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.29e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.1e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.13e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

VQSLOD
type: SiteQuality
SIO_000300: 4.76e0

DP
type: SiteQuality
SIO_000300: 1.410734e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-1

GenotypeQuality
all individuals: 54
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41419
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8176
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

Latino
type: Population
allele count: 14
allele frequency: 1.304023845007452e-3
allele num: 10736
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6012
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63660
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14784
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.37e1

VQSLOD
type: SiteQuality
SIO_000300: 2.82e0

DP
type: SiteQuality
SIO_000300: 1.40608e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.172e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

GenotypeQuality
all individuals: 6258
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 3.75e1
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GenotypeQuality
all individuals: 172
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 979
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1300
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1181
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40626
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5452
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.474022761009402e-4
allele num: 8084
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10590
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5944
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9674
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63324
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14680
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

QD
type: SiteQuality
SIO_000300: 9.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.15e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.02e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

FS
type: SiteQuality
SIO_000300: 1.012e0

VQSLOD
type: SiteQuality
SIO_000300: 3.92e-1

DP
type: SiteQuality
SIO_000300: 1.393056e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e-1

GenotypeQuality
all individuals: 86
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40626
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variant carriers: 0

GenotypeQuality
all individuals: 492
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GenotypeQuality
all individuals: 334
bin: 5.75e1
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GenotypeQuality
all individuals: 1300
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GenotypeQuality
all individuals: 721
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 148
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10590
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9674
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14680
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.579180089697429e-5
allele num: 63324
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8084
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5944
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.012e0

MQRankSum
type: SiteQuality
SIO_000300: 7.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

DP
type: SiteQuality
SIO_000300: 1.393056e6

VQSLOD
type: SiteQuality
SIO_000300: 3.92e-1

QD
type: SiteQuality
SIO_000300: 9.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.15e-1

GenotypeQuality
all individuals: 955
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 9.75e1
variant carriers: 153

GenotypeQuality
all individuals: 1153
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39437
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variant carriers: 0

GenotypeQuality
all individuals: 6781
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variant carriers: 0

GenotypeQuality
all individuals: 160
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GenotypeQuality
all individuals: 704
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variant carriers: 0

GenotypeQuality
all individuals: 5377
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variant carriers: 0

GenotypeQuality
all individuals: 766
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 143
allele frequency: 1.787946986746687e-2
allele num: 7998
num of homozygotes: 1

African
type: Population
allele count: 11
allele frequency: 1.142738416787866e-3
allele num: 9626
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.585439325237023e-5
allele num: 63074
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10494
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.858710562414266e-5
allele num: 14580
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.385559e6

BaseQRankSum
type: SiteQuality
SIO_000300: 9.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.322e1

MQRankSum
type: SiteQuality
SIO_000300: 3.53e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

GenotypeQuality
all individuals: 91
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1147
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 485
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variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 943
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1044
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 549
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variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1272
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 751
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5386
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.853070175438596e-5
allele num: 14592
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7990
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.54380606986066e-5
allele num: 10478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63060
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9616
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5876
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.091e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.89e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.552e0

FS
type: SiteQuality
SIO_000300: 5.669999999999999e-1

QD
type: SiteQuality
SIO_000300: 8.51e0

DP
type: SiteQuality
SIO_000300: 1.381423e6

GenotypeQuality
all individuals: 38744
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7859
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variant carriers: 0

GenotypeQuality
all individuals: 25
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GenotypeQuality
all individuals: 660
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variant carriers: 0

GenotypeQuality
all individuals: 474
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variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1070
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1237
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 862
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9542
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5794
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.600973391822228e-5
allele num: 62462
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7906
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.056e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.66e0

VQSLOD
type: SiteQuality
SIO_000300: 6.38e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.129e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e0

DP
type: SiteQuality
SIO_000300: 1.361328e6

MQRankSum
type: SiteQuality
SIO_000300: -4.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.41e-1

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

GenotypeQuality
all individuals: 381
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 150
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1268
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4711
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1099
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 974
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10187
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 995
bin: 7.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5528
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9270
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7734
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14062
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.642467643387425e-5
allele num: 60884
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.976e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.09e-1

FS
type: SiteQuality
SIO_000300: 1.034e0

QD
type: SiteQuality
SIO_000300: 1.54e1

DP
type: SiteQuality
SIO_000300: 1.315923e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0