21-46696926-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46696926
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46696926
    reference: chr 21
allele count: 1
allele frequency: 8.273214640280627e-6
allele num: 120872
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.831+6C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.831+6C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.588+6C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.711+6C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.598+6C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.831+6C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.957+6C>T
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10622
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4964
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5155
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4375
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22047
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.25e1
  variant carriers: 0
hgvs: c.831+6C>T
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

21-46696928-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46696928
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46696928
    reference: chr 21
allele count: 1
allele frequency: 8.269793751343841e-6
allele num: 120922
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.831+4G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.831+4G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.957+4G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.588+4G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.711+4G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.831+4G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.598+4G>A
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4963
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8502
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22081
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3377
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
hgvs: c.831+4G>A
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum

21-46696949-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46696949
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46696949
    reference: chr 21
allele count: 2
allele frequency: 1.649457328538911e-5
allele num: 121252
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.940G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.814G>A
  hgvsp: ENSP00000339613.5:p.Asp272Asn
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.694G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.814G>A
  hgvsp: ENSP00000329682.7:p.Asp272Asn
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.814G>A
  hgvsp: ENSP00000335427.9:p.Asp272Asn
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.581G>A
  hgvsp: ENSP00000407635.1:p.Asp195Asn
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.571G>A
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10650
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4963
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3294
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4378
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8531
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11388
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp272Asn
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

21-46696955-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46696955
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46696955
    reference: chr 21
allele count: 1
allele frequency: 8.24551856066228e-6
allele num: 121278
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.808C>T
  hgvsp: ENSP00000335427.9:p.Gln270Ter
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.934C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.565C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.808C>T
  hgvsp: ENSP00000329682.7:p.Gln270Ter
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.575C>T
  hgvsp: ENSP00000407635.1:p.Gln193Ter
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.808C>T
  hgvsp: ENSP00000339613.5:p.Gln270Ter
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.688C>T
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4963
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7110
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3294
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2016
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln270Ter
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ

21-46696962-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46696962
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46696962
    reference: chr 21
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.801C>A
  hgvsp: ENST00000334538.9:c.801C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.927C>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.801C>A
  hgvsp: ENST00000349485.5:c.801C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.568C>A
  hgvsp: ENST00000451615.1:c.568C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.681C>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.801C>A
  hgvsp: ENST00000331343.7:c.801C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.558C>A
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4964
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4377
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5154
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22400
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3297
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile267Ile
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

21-46696973-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46696973
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46696973
    reference: chr 21
allele count: 2
allele frequency: 1.648559982854976e-5
allele num: 121318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.557G>A
  hgvsp: ENSP00000407635.1:p.Ala187Thr
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.790G>A
  hgvsp: ENSP00000329682.7:p.Ala264Thr
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.790G>A
  hgvsp: ENSP00000339613.5:p.Ala264Thr
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.790G>A
  hgvsp: ENSP00000335427.9:p.Ala264Thr
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.916G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.547G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.670G>A
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10632
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4963
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4379
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11382
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala264Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

21-46696974-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46696974
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46696974
    reference: chr 21
allele count: 2
allele frequency: 1.648559982854976e-5
allele num: 121318
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.789C>T
  hgvsp: ENST00000349485.5:c.789C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.789C>T
  hgvsp: ENST00000334538.9:c.789C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.789C>T
  hgvsp: ENST00000331343.7:c.789C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.669C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.546C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.556C>T
  hgvsp: ENST00000451615.1:c.556C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.915C>T
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4963
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11380
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3297
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp263Asp
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

21-46696976-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46696976
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46696976
    reference: chr 21
allele count: 7
allele frequency: 5.769769703763538e-5
allele num: 121322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.667G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.787G>A
  hgvsp: ENSP00000329682.7:p.Asp263Asn
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.787G>A
  hgvsp: ENSP00000339613.5:p.Asp263Asn
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.913G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.787G>A
  hgvsp: ENSP00000335427.9:p.Asp263Asn
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.554G>A
  hgvsp: ENSP00000407635.1:p.Asp186Asn
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.544G>A
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13488
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4963
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3381
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5155
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp263Asn
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

21-46696977-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46696977
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46696977
    reference: chr 21
allele count: 13
allele frequency: 1.071563988855734e-4
allele num: 121318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.666C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.786C>T
  hgvsp: ENST00000349485.5:c.786C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.553C>T
  hgvsp: ENST00000451615.1:c.553C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.786C>T
  hgvsp: ENST00000334538.9:c.786C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.543C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.912C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.786C>T
  hgvsp: ENST00000331343.7:c.786C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4964
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10632
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7116
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3382
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22432
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8532
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp262Asp
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

21-46696980-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46696980
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46696980
    reference: chr 21
allele count: 3
allele frequency: 2.472839974282464e-5
allele num: 121318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.550G>A
  hgvsp: ENST00000451615.1:c.550G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.909G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.783G>A
  hgvsp: ENST00000349485.5:c.783G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.783G>A
  hgvsp: ENST00000331343.7:c.783G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.783G>A
  hgvsp: ENST00000334538.9:c.783G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.663G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.540G>A
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13497
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10633
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7116
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7610
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4965
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3306
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22440
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3382
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr261Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

21-46696981-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46696981
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46696981
    reference: chr 21
allele count: 3
allele frequency: 2.472921509471289e-5
allele num: 121314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.782C>T
  hgvsp: ENSP00000335427.9:p.Thr261Met
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.782C>T
  hgvsp: ENSP00000329682.7:p.Thr261Met
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.539C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.782C>T
  hgvsp: ENSP00000339613.5:p.Thr261Met
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.549C>T
  hgvsp: ENSP00000407635.1:p.Thr184Met
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.662C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.908C>T
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4965
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13500
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11361
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3382
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr261Met
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP

21-46696998-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46696998
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46696998
    reference: chr 21
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.765C>A
  hgvsp: ENSP00000329682.7:p.Ser255Arg
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.532C>A
  hgvsp: ENSP00000407635.1:p.Ser178Arg
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.522C>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.765C>A
  hgvsp: ENSP00000335427.9:p.Ser255Arg
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.891C>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.765C>A
  hgvsp: ENSP00000339613.5:p.Ser255Arg
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.645C>A
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4966
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11359
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8524
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4373
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser255Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

21-46697004-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46697004
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46697004
    reference: chr 21
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.885C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.759C>T
  hgvsp: ENST00000331343.7:c.759C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.759C>T
  hgvsp: ENST00000334538.9:c.759C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.759C>T
  hgvsp: ENST00000349485.5:c.759C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.516C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.526C>T
  hgvsp: ENST00000451615.1:c.526C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.639C>T
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4966
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10635
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5159
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8524
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11358
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4373
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22385
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Phe253Phe
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

21-46697009-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46697009
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46697009
    reference: chr 21
allele count: 5
allele frequency: 4.123983438082513e-5
allele num: 121242
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.634G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.754G>A
  hgvsp: ENSP00000329682.7:p.Glu252Lys
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.880G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.521G>A
  hgvsp: ENSP00000407635.1:p.Glu175Lys
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.511G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.754G>A
  hgvsp: ENSP00000339613.5:p.Glu252Lys
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.754G>A
  hgvsp: ENSP00000335427.9:p.Glu252Lys
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4967
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10670
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10635
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22322
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2020
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu252Lys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP

21-46697010-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46697010
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46697010
    reference: chr 21
allele count: 17
allele frequency: 1.402293161758641e-4
allele num: 121230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.753C>T
  hgvsp: ENST00000334538.9:c.753C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.520C>T
  hgvsp: ENST00000451615.1:c.520C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.753C>T
  hgvsp: ENST00000331343.7:c.753C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.633C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.879C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.753C>T
  hgvsp: ENST00000349485.5:c.753C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.510C>T
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4966
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 10636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8523
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3296
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp251Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD

21-46697024-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46697024
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46697024
    reference: chr 21
allele count: 1
allele frequency: 8.256411103221652e-6
allele num: 121118
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.739C>T
  hgvsp: ENSP00000329682.7:p.Arg247Trp
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.865C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.739C>T
  hgvsp: ENSP00000339613.5:p.Arg247Trp
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.619C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.496C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.739C>T
  hgvsp: ENSP00000335427.9:p.Arg247Trp
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.506C>T
  hgvsp: ENSP00000407635.1:p.Arg170Trp
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10640
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7614
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4968
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4369
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg247Trp
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD

21-46697027-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46697027
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46697027
    reference: chr 21
allele count: 76
allele frequency: 6.274561606287771e-4
allele num: 121124
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.503C>T
  hgvsp: ENST00000451615.1:c.503C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.616C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.862C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.736C>T
  hgvsp: ENST00000334538.9:c.736C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.736C>T
  hgvsp: ENST00000331343.7:c.736C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.736C>T
  hgvsp: ENST00000349485.5:c.736C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.493C>T
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6916
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13485
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4966
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10641
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11350
  bin: 9.75e1
  variant carriers: 75
genotype quality: GenotypeQuality
  all individuals: 3378
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu246Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

21-46697032-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46697032
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46697031
    reference: chr 21
allele count: 1
allele frequency: 8.259411599517651e-6
allele num: 121074
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.730delA
  hgvsp: ENSP00000339613.5:p.Arg244GlyfsTer31
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.730delA
  hgvsp: ENSP00000329682.7:p.Arg244GlyfsTer31
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.610delA
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.487delA
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.856delA
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.730delA
  hgvsp: ENSP00000335427.9:p.Arg244GlyfsTer31
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.497delA
  hgvsp: ENSP00000407635.1:p.Arg167GlyfsTer31
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10653
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10655
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4969
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22208
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4370
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8505
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg244GlyfsTer31
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: CT
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

21-46697036-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46697036
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46697036
    reference: chr 21
allele count: 3
allele frequency: 2.478929102627665e-5
allele num: 121020
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.484G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.727G>A
  hgvsp: ENSP00000335427.9:p.Ala243Thr
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.853G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.494G>A
  hgvsp: ENSP00000407635.1:p.Ala166Thr
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.727G>A
  hgvsp: ENSP00000329682.7:p.Ala243Thr
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.727G>A
  hgvsp: ENSP00000339613.5:p.Ala243Thr
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.607G>A
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7619
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4969
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13509
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3285
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8498
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4367
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3386
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala243Thr
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

21-46697053-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46697053
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46697053
    reference: chr 21
allele count: 3
allele frequency: 2.48752093663455e-5
allele num: 120602
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.836G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.467G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.477G>A
  hgvsp: ENSP00000407635.1:p.Arg160His
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.710G>A
  hgvsp: ENSP00000329682.7:p.Arg237His
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.710G>A
  hgvsp: ENSP00000335427.9:p.Arg237His
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.590G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.710G>A
  hgvsp: ENSP00000339613.5:p.Arg237His
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4969
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7619
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2015
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11277
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4360
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5152
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21542
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg237His
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

21-46697054-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46697054
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46697054
    reference: chr 21
allele count: 2
allele frequency: 1.658622348277521e-5
allele num: 120582
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.589C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.709C>T
  hgvsp: ENSP00000329682.7:p.Arg237Cys
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.709C>T
  hgvsp: ENSP00000335427.9:p.Arg237Cys
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.709C>T
  hgvsp: ENSP00000339613.5:p.Arg237Cys
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.466C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.835C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.476C>T
  hgvsp: ENSP00000407635.1:p.Arg160Cys
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6291
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13470
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10547
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4970
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4359
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11274
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5151
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21567
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2015
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg237Cys
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

21-46697062-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46697062
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46697062
    reference: chr 21
allele count: 1
allele frequency: 8.327920185212944e-6
allele num: 120078
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.706-5C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.832-5C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.473-5C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.463-5C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.706-5C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.706-5C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.586-5C>T
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4967
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8358
  bin: 6.75e1
  variant carriers: 0
hgvs: c.706-5C>T
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ

21-46697067-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46697067
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46697067
    reference: chr 21
allele count: 3
allele frequency: 2.504131817498873e-5
allele num: 119802
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.586-10G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.706-10G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.706-10G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.463-10G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.706-10G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.832-10G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.473-10G>A
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10593
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4965
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7605
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3378
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1877
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3243
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP

21-46697068-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46697068
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46697068
    reference: chr 21
allele count: 1
allele frequency: 8.350730688935283e-6
allele num: 119750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.586-11C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.832-11C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.706-11C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.463-11C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.706-11C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.706-11C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.473-11C>T
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5110
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4961
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11267
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5130
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8291
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4350
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

21-46697070-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46697070
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46697070
    reference: chr 21
allele count: 8
allele frequency: 6.69713864751285e-5
allele num: 119454
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.706-13G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.463-13G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.832-13G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.473-13G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.706-13G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.586-13G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.706-13G>A
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9911
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7583
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4952
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13201
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10541
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5112
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3207
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8162
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2235
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4345
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

21-46697071-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46697071
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46697071
    reference: chr 21
allele count: 15
allele frequency: 1.256071009881092e-4
allele num: 119420
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.706-14C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.832-14C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.473-14C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.706-14C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.586-14C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.463-14C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.706-14C>T
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13144
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10510
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9883
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7565
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4948
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8163
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2318
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3205
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

21-46697073-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46697073
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46697073
    reference: chr 21
allele count: 4
allele frequency: 3.354072682755036e-5
allele num: 119258
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.706-16G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.473-16G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.706-16G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.463-16G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.586-16G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.706-16G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.832-16G>A
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7565
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4586
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4950
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9808
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2802
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8133
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2429
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3201
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

21-46697074-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46697074
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46697074
    reference: chr 21
allele count: 5
allele frequency: 4.194138272350563e-5
allele num: 119214
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.463-17C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.586-17C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.832-17C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.706-17C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.706-17C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.473-17C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.706-17C>T
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4948
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4557
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10467
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9779
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7554
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8118
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18560
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4343
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3373
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2517
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5101
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum

21-46697079-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46697079
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46697079
    reference: chr 21
allele count: 8
allele frequency: 6.733213257696904e-5
allele num: 118814
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.586-22C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.463-22C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.706-22C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.706-22C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.832-22C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.706-22C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.473-22C>T
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4943
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7528
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10366
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7987
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18026
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11235
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 4331
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2821
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3364
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

21-46697080-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46697080
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46697080
    reference: chr 21
allele count: 2
allele frequency: 1.684040349606777e-5
allele num: 118762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.463-23C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.832-23C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.706-23C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.586-23C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.706-23C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.706-23C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.473-23C>T
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4941
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12751
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7969
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5057
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3363
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2958
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2002
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD

21-46697080-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46697080
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46697080
    reference: chr 21
allele count: 1
allele frequency: 8.420201748033883e-6
allele num: 118762
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.706-23C>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.706-23C>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.832-23C>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.463-23C>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.473-23C>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.586-23C>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.706-23C>A
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4941
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12751
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7525
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7969
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2958
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3174
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

21-46697080-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46697080
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46697080
    reference: chr 21
allele count: 1
allele frequency: 8.420201748033883e-6
allele num: 118762
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.706-23C>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.706-23C>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.832-23C>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.473-23C>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.463-23C>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.586-23C>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.706-23C>G
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4941
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12751
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4327
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

21-46697089-A-ACGCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46697089
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46697093
    reference: chr 21
allele count: 3
allele frequency: 2.566603357117191e-5
allele num: 116886
alternate allele: ACGCC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.586-36_586-33dupGGCG
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.473-36_473-33dupGGCG
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.706-36_706-33dupGGCG
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.706-36_706-33dupGGCG
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.463-36_463-33dupGGCG
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.706-36_706-33dupGGCG
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.832-36_832-33dupGGCG
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9655
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4779
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8575
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1429
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6719
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11214
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4858
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

21-46697090-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46697090
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46697090
    reference: chr 21
allele count: 2
allele frequency: 1.716443529007896e-5
allele num: 116520
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.586-33G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.706-33G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.473-33G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.706-33G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.706-33G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.463-33G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.832-33G>A
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9493
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11525
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3731
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4730
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8688
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6381
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2918
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3397
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11868
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2001
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ

21-46697091-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46697091
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46697091
    reference: chr 21
allele count: 1
allele frequency: 8.585017427585377e-6
allele num: 116482
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.463-34C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.706-34C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.586-34C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.473-34C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.832-34C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.706-34C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.706-34C>T
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9478
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4725
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7080
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4271
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3336
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3410
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1464
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum

21-46697091-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46697091
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46697091
    reference: chr 21
allele count: 1
allele frequency: 8.585017427585377e-6
allele num: 116482
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.832-34C>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.706-34C>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.586-34C>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.463-34C>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.706-34C>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.473-34C>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.706-34C>A
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7080
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4725
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11210
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2911
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3410
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6364
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12009
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2001
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/21-46697092-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46697092
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46697092
    reference: chr 21
allele count: 1
allele frequency: 8.555637309423178e-6
allele num: 116882
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.706-35G>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.706-35G>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.586-35G>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.463-35G>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.706-35G>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.473-35G>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.832-35G>T
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3523
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4139
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9370
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3778
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4713
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7026
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2001
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3339
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11211
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

21-46697094-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46697094
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46697094
    reference: chr 21
allele count: 79
allele frequency: 6.775183959108763e-4
allele num: 116602
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.832-37G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.586-37G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.706-37G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.706-37G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.463-37G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.706-37G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.473-37G>A
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9169
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 8905
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11139
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4552
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 6966
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3619
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4682
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2123
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6484
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2935
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1989
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 1
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

21-46697095-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46697095
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46697095
    reference: chr 21
allele count: 1
allele frequency: 8.60096674866255e-6
allele num: 116266
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.706-38C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.706-38C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.473-38C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.586-38C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.463-38C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.706-38C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.832-38C>T
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8951
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4535
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3803
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11186
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1985
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4844
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3329
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

21-46697097-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46697097
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46697097
    reference: chr 21
allele count: 1
allele frequency: 8.564576909900651e-6
allele num: 116760
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.706-40G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.706-40G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.832-40G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.463-40G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.706-40G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.586-40G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.473-40G>A
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4671
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4522
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8960
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10984
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9079
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6918
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4258
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1506
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3337
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3816
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD

21-46697098-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46697098
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46697098
    reference: chr 21
allele count: 16
allele frequency: 1.373013421206192e-4
allele num: 116532
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.832-41G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.706-41G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.706-41G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.463-41G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.586-41G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.706-41G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.473-41G>A
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4752
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3764
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6919
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4669
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9052
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8682
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6490
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2932
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13161
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1681
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 1
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

21-46697099-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46697099
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46697099
    reference: chr 21
allele count: 1
allele frequency: 8.595348197555483e-6
allele num: 116342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.706-42C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.706-42C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.586-42C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.706-42C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.832-42C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.473-42C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.463-42C>T
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6896
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10629
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3751
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4658
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6410
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3700
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2227
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4233
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP

21-46697099-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46697099
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46697099
    reference: chr 21
allele count: 2
allele frequency: 1.719069639511097e-5
allele num: 116342
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.706-42C>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.832-42C>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.586-42C>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.463-42C>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.706-42C>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.473-42C>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.706-42C>G
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3751
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6896
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10629
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4658
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1741
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12769
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2907
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4233
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3700
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

21-46697099-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46697099
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46697099
    reference: chr 21
allele count: 1
allele frequency: 8.595348197555483e-6
allele num: 116342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.586-42C>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.463-42C>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.473-42C>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.706-42C>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.706-42C>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.706-42C>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.832-42C>A
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3751
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4658
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6896
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10629
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11166
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2227
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12769
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4233
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4823
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

21-46697100-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46697100
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46697100
    reference: chr 21
allele count: 281
allele frequency: 2.412762742134909e-3
allele num: 116464
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.473-43G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.706-43G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.463-43G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.706-43G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.832-43G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.706-43G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.586-43G>A
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6872
  bin: 4.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 4661
  bin: 4.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10503
  bin: 3.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 8512
  bin: 2.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 9011
  bin: 3.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 3741
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 5.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4615
  bin: 2.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 5.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 6.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4694
  bin: 1.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 4822
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2913
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 12696
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1580
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3711
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 3
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

21-46697104-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46697104
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46697104
    reference: chr 21
allele count: 4
allele frequency: 3.443111195276051e-5
allele num: 116174
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.831+44C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.706-47C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.586-47C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.473-47C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.706-47C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.706-47C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.463-47C>T
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4633
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3720
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6856
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8990
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4776
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11854
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2058
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2377
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

21-46697108-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46697108
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46697108
    reference: chr 21
allele count: 1
allele frequency: 8.654861435668416e-6
allele num: 115542
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.706-51G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.586-51G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.473-51G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.463-51G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.706-51G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.706-51G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.831+40G>A
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6845
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3685
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8909
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8065
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4612
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6142
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4642
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4184
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8436
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2684
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2272
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2437
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2804
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

21-46697967-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46697967
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46697967
    reference: chr 21
allele count: 8
allele frequency: 6.590111537637774e-5
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.462+51A>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.585+51A>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.472+51A>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.705+51A>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.290+51A>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.705+51A>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.705+51A>G
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5448
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3997
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4389
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6980
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5465
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1438
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

21-46697973-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46697973
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46697973
    reference: chr 21
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.585+45C>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.705+45C>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.472+45C>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.705+45C>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.290+45C>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.705+45C>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.462+45C>G
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5465
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3646
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3998
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6974
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1628
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

21-46697987-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46697987
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46697987
    reference: chr 21
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.705+31G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.705+31G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.290+31G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.705+31G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.462+31G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.585+31G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.472+31G>C
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2932
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6973
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5465
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3998
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

21-46697997-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46697997
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46697997
    reference: chr 21
allele count: 291
allele frequency: 2.39731105728832e-3
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.705+21G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.705+21G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.290+21G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.585+21G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.705+21G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.472+21G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.462+21G>A
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5466
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3647
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5447
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2934
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5103
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4393
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6992
  bin: 9.75e1
  variant carriers: 273
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 2
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

21-46697998-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46697998
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46697998
    reference: chr 21
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.585+20C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.290+20C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.705+20C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.472+20C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.462+20C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.705+20C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.705+20C>T
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4723
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6750
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ

21-46697999-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46697999
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46697999
    reference: chr 21
allele count: 4
allele frequency: 3.295218637756615e-5
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.585+19G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.705+19G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.462+19G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.705+19G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.290+19G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.705+19G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.472+19G>A
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6751
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4723
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51101
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

21-46698003-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46698003
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46698003
    reference: chr 21
allele count: 9
allele frequency: 7.413875479842496e-5
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.705+15G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.585+15G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.290+15G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.462+15G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.705+15G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.472+15G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.705+15G>A
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4723
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6747
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2498
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51101
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD

21-46698004-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46698004
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46698004
    reference: chr 21
allele count: 2
allele frequency: 1.647555028337947e-5
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.705+14C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.472+14C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.705+14C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.705+14C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.290+14C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.585+14C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.462+14C>T
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6741
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4724
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1633
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1429
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

21-46698006-G-GCCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46698006
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46698009
    reference: chr 21
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: GCCA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.705+11_705+12insTGG
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.462+11_462+12insTGG
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.585+11_585+12insTGG
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.705+11_705+12insTGG
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.290+11_290+12insTGG
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.705+11_705+12insTGG
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.472+11_472+12insTGG
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4723
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6741
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3148
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

21-46698007-GAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46698007
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46698005
    reference: chr 21
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.472+9_472+10delTT
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.705+9_705+10delTT
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.705+9_705+10delTT
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.705+9_705+10delTT
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.290+9_290+10delTT
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.585+9_585+10delTT
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.462+9_462+10delTT
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6741
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4723
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1633
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2506
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: GAA
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/21-46698010-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46698010
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46698010
    reference: chr 21
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.472+8T>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.585+8T>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.705+8T>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.705+8T>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.290+8T>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.462+8T>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.705+8T>G
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4723
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6741
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1633
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2506
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 7.25e1
  variant carriers: 0
hgvs: c.705+8T>G
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

21-46698022-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46698022
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46698022
    reference: chr 21
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.701G>A
  hgvsp: ENSP00000339613.5:p.Trp234Ter
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.286G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.701G>A
  hgvsp: ENSP00000335427.9:p.Trp234Ter
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.458G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.468G>A
  hgvsp: ENSP00000407635.1:p.Trp157Ter
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.701G>A
  hgvsp: ENSP00000329682.7:p.Trp234Ter
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.581G>A
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6740
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4723
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1428
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Trp234Ter
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

21-46698027-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46698027
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46698027
    reference: chr 21
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.696A>G
  hgvsp: ENST00000331343.7:c.696A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.453A>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.463A>G
  hgvsp: ENST00000451615.1:c.463A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.696A>G
  hgvsp: ENST00000334538.9:c.696A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.696A>G
  hgvsp: ENST00000349485.5:c.696A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.576A>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.281A>G
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6739
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4723
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1428
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu232Glu
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

21-46698033-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46698033
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46698033
    reference: chr 21
allele count: 4
allele frequency: 3.295110056675893e-5
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.690G>A
  hgvsp: ENST00000331343.7:c.690G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.570G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.690G>A
  hgvsp: ENST00000334538.9:c.690G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.457G>A
  hgvsp: ENST00000451615.1:c.457G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.275G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.690G>A
  hgvsp: ENST00000349485.5:c.690G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.447G>A
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6738
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4723
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51099
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1427
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly230Gly
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

21-46698040-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46698040
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46698040
    reference: chr 21
allele count: 2
allele frequency: 1.64766361299677e-5
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.450A>G
  hgvsp: ENSP00000407635.1:p.Tyr151Cys
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.683A>G
  hgvsp: ENSP00000339613.5:p.Tyr228Cys
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.683A>G
  hgvsp: ENSP00000329682.7:p.Tyr228Cys
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.440A>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.563A>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.268A>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.683A>G
  hgvsp: ENSP00000335427.9:p.Tyr228Cys
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6734
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4724
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5488
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1427
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Tyr228Cys
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

21-46698044-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46698044
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46698044
    reference: chr 21
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.679C>G
  hgvsp: ENSP00000329682.7:p.His227Asp
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.679C>G
  hgvsp: ENSP00000339613.5:p.His227Asp
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.559C>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.679C>G
  hgvsp: ENSP00000335427.9:p.His227Asp
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.264C>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.436C>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.446C>G
  hgvsp: ENSP00000407635.1:p.His150Asp
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5471
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5488
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4724
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6733
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1427
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2523
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His227Asp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
reference allele: G
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

21-46698047-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46698047
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46698047
    reference: chr 21
allele count: 2
allele frequency: 1.647826516824309e-5
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.261G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.556G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.676G>A
  hgvsp: ENSP00000335427.9:p.Asp226Asn
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.676G>A
  hgvsp: ENSP00000339613.5:p.Asp226Asn
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.433G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.676G>A
  hgvsp: ENSP00000329682.7:p.Asp226Asn
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.443G>A
  hgvsp: ENSP00000407635.1:p.Asp149Asn
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4724
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5488
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6732
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5471
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1633
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp226Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP

21-46698048-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46698048
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46698048
    reference: chr 21
allele count: 9
allele frequency: 7.415097137772504e-5
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.555C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.675C>T
  hgvsp: ENST00000349485.5:c.675C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.432C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.442C>T
  hgvsp: ENST00000451615.1:c.442C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.675C>T
  hgvsp: ENST00000334538.9:c.675C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.260C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.675C>T
  hgvsp: ENST00000331343.7:c.675C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4724
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5128
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6731
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5471
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
hgvs: p.His225His
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ

21-46698063-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46698063
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46698063
    reference: chr 21
allele count: 3
allele frequency: 2.47255464345762e-5
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.245C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.417C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.540C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.660C>T
  hgvsp: ENST00000331343.7:c.660C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.427C>T
  hgvsp: ENST00000451615.1:c.427C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.660C>T
  hgvsp: ENST00000334538.9:c.660C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.660C>T
  hgvsp: ENST00000349485.5:c.660C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5488
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4725
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3148
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6723
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5128
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2488
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala220Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP

21-46698068-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46698068
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46698068
    reference: chr 21
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.240A>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.655A>G
  hgvsp: ENSP00000335427.9:p.Arg219Gly
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.655A>G
  hgvsp: ENSP00000339613.5:p.Arg219Gly
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.535A>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.655A>G
  hgvsp: ENSP00000329682.7:p.Arg219Gly
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.412A>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.422A>G
  hgvsp: ENSP00000407635.1:p.Arg142Gly
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5128
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3660
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5488
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4725
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6722
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51096
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg219Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

21-46698080-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46698080
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46698080
    reference: chr 21
allele count: 1
allele frequency: 8.245926512302922e-6
allele num: 121272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.400G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.523G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.643G>A
  hgvsp: ENSP00000329682.7:p.Val215Met
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.643G>A
  hgvsp: ENSP00000335427.9:p.Val215Met
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.643G>A
  hgvsp: ENSP00000339613.5:p.Val215Met
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.410G>A
  hgvsp: ENSP00000407635.1:p.Val138Met
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.228G>A
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3660
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5128
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5488
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6721
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4725
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val215Met
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

21-46698081-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46698081
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46698081
    reference: chr 21
allele count: 1
allele frequency: 8.245926512302922e-6
allele num: 121272
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.642C>T
  hgvsp: ENST00000349485.5:c.642C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.227C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.642C>T
  hgvsp: ENST00000331343.7:c.642C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.409C>T
  hgvsp: ENST00000451615.1:c.409C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.399C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.522C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.642C>T
  hgvsp: ENST00000334538.9:c.642C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4725
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5128
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5489
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3660
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6720
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser214Ser
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

21-46698085-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46698085
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46698085
    reference: chr 21
allele count: 1
allele frequency: 8.24783082049421e-6
allele num: 121244
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.639-1G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.224-1G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.406-1G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.639-1G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.396-1G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.519-1G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.639-1G>C
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6719
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4725
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3661
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5489
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5128
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51094
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2361
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
hgvs: c.639-1G>C
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

21-46698087-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46698087
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46698087
    reference: chr 21
allele count: 5
allele frequency: 4.124323610927808e-5
allele num: 121232
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.406-3C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.224-3C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.396-3C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.519-3C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.639-3C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.639-3C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.639-3C>T
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4725
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6718
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5489
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3661
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1420
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 8.75e1
  variant carriers: 0
hgvs: c.639-3C>T
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/21-46698093-AAAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46698093
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46698090
    reference: chr 21
allele count: 2
allele frequency: 1.650410126916539e-5
allele num: 121182
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000468360
  gene symbol: POFUT2
  hgvsc: ENST00000468360.1:n.396-12_396-10delGTT
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.639-12_639-10delGTT
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.224-12_224-10delGTT
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.639-12_639-10delGTT
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.639-12_639-10delGTT
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000493524
  gene symbol: POFUT2
  hgvsc: ENST00000493524.1:n.519-12_519-10delGTT
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000407635
  ensembl transcript: ENST00000451615
  gene symbol: POFUT2
  hgvsc: ENST00000451615.1:c.406-12_406-10delGTT
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3661
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5490
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: AAAC

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2013
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11388
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3289
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8500
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3378
bin: 9.25e1
variant carriers: 0

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

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

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

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

European (Finnish)
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European (Non-Finnish)
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East Asian
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South Asian
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Other
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African
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Latino
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MQRankSum
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InbreedingCoeff
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QD
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DP
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MQ
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FS
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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Latino
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South Asian
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Other
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European (Non-Finnish)
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East Asian
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BaseQRankSum
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ClippingRankSum
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QD
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InbreedingCoeff
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MQRankSum
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DP
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FS
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VQSLOD
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MQ
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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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East Asian
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South Asian
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European (Finnish)
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European (Non-Finnish)
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African
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Other
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Latino
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QD
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VQSLOD
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MQRankSum
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MQ
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FS
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InbreedingCoeff
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DP
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BaseQRankSum
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ClippingRankSum
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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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South Asian
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European (Finnish)
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Latino
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Other
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European (Non-Finnish)
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East Asian
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African
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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DP
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MQ
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ReadPosRankSum
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VQSLOD
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MQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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Latino
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European (Non-Finnish)
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East Asian
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Other
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European (Finnish)
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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DP
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FS
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QD
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VQSLOD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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East Asian
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Latino
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South Asian
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European (Non-Finnish)
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FS
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DP
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ReadPosRankSum
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VQSLOD
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QD
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BaseQRankSum
type: SiteQuality
SIO_000300: 5.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.083e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

MQ
type: SiteQuality
SIO_000300: 5.941e1

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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bin: 6.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.03e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.055e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.335e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-3

DP
type: SiteQuality
SIO_000300: 2.180483e6

GenotypeQuality
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bin: 3.25e1
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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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500330072615976e-5
allele num: 66652
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.586e0

FS
type: SiteQuality
SIO_000300: 6.820000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.179653e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.91e0

MQRankSum
type: SiteQuality
SIO_000300: 4.84e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.318e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

GenotypeQuality
all individuals: 6
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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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50073536032656e-5
allele num: 66634
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.754e0

MQ
type: SiteQuality
SIO_000300: 5.88e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.094e0

FS
type: SiteQuality
SIO_000300: 3.678e0

DP
type: SiteQuality
SIO_000300: 2.179286e6

QD
type: SiteQuality
SIO_000300: 1.402e1

VQSLOD
type: SiteQuality
SIO_000300: -1.185e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.066e0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
all individuals: 11
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variant carriers: 0

East Asian
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allele count: 2
allele frequency: 2.31696014828545e-4
allele num: 8632
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.75e-1

FS
type: SiteQuality
SIO_000300: 1.105e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.29e-1

MQ
type: SiteQuality
SIO_000300: 5.986e1

VQSLOD
type: SiteQuality
SIO_000300: 4.72e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.41e-1

QD
type: SiteQuality
SIO_000300: 1.261e1

DP
type: SiteQuality
SIO_000300: 2.178647e6

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 30
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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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variant carriers: 17

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 22326
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.402258122635277e-4
allele num: 66604
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.0e-2

MQ
type: SiteQuality
SIO_000300: 5.957e1

VQSLOD
type: SiteQuality
SIO_000300: 4.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

DP
type: SiteQuality
SIO_000300: 2.178776e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.19e-1

QD
type: SiteQuality
SIO_000300: 1.2e1

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: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66506
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.865e0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

VQSLOD
type: SiteQuality
SIO_000300: 8.0e-2

MQ
type: SiteQuality
SIO_000300: 5.909e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.68e-1

FS
type: SiteQuality
SIO_000300: 3.741e0

DP
type: SiteQuality
SIO_000300: 2.175908e6

QD
type: SiteQuality
SIO_000300: 1.184e1

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: 0

South Asian
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allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

Latino
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allele count: 3
allele frequency: 2.592912705272256e-4
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
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allele count: 17
allele frequency: 2.555622369212267e-4
allele num: 66520
num of homozygotes: 0

African
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allele count: 54
allele frequency: 5.200308166409861e-3
allele num: 10384
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.01e-2

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.313e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.38e-1

DP
type: SiteQuality
SIO_000300: 2.178266e6

MQ
type: SiteQuality
SIO_000300: 5.964e1

VQSLOD
type: SiteQuality
SIO_000300: 5.64e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-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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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504121292341014e-5
allele num: 66484
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.354e0

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.043e1

MQRankSum
type: SiteQuality
SIO_000300: 4.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.171439e6

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -4.29e-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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 9
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.514808572116542e-5
allele num: 66448
num of homozygotes: 0

East Asian
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allele num: 8614
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.69e-1

FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.170734e6

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.71e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.158e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 809
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.087909411907951e-5
allele num: 16426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.020965500573983e-5
allele num: 66204
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.69e0

FS
type: SiteQuality
SIO_000300: 4.251e0

MQRankSum
type: SiteQuality
SIO_000300: -1.52e-1

DP
type: SiteQuality
SIO_000300: 2.163025e6

QD
type: SiteQuality
SIO_000300: 1.292e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.311e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

GenotypeQuality
all individuals: 845
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3258
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510756586898719e-5
allele num: 66192
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.164686699277894e-4
allele num: 8586
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.142e0

QD
type: SiteQuality
SIO_000300: 6.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-2

FS
type: SiteQuality
SIO_000300: 5.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.16238e6

MQRankSum
type: SiteQuality
SIO_000300: -2.92e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.045e0

GenotypeQuality
all individuals: 11269
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2011
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variant carriers: 0

GenotypeQuality
all individuals: 3381
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516898246465627e-5
allele num: 65924
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16278
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.83e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.522e1

DP
type: SiteQuality
SIO_000300: 2.149894e6

MQ
type: SiteQuality
SIO_000300: 5.981e1

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19863
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 366
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variant carriers: 0

GenotypeQuality
all individuals: 5129
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 11270
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variant carriers: 3

GenotypeQuality
all individuals: 8282
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variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.72951936174353e-5
allele num: 10278
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.232437761893024e-4
allele num: 16228
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65746
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

MQRankSum
type: SiteQuality
SIO_000300: -9.8e-2

MQ
type: SiteQuality
SIO_000300: 5.946e1

VQSLOD
type: SiteQuality
SIO_000300: -3.477e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.139999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.22e-1

QD
type: SiteQuality
SIO_000300: 1.179e1

FS
type: SiteQuality
SIO_000300: 2.0714e1

DP
type: SiteQuality
SIO_000300: 2.139369e6

GenotypeQuality
all individuals: 388
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3241
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variant carriers: 0

GenotypeQuality
all individuals: 375
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variant carriers: 0

GenotypeQuality
all individuals: 37
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variant carriers: 0

GenotypeQuality
all individuals: 16
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GenotypeQuality
all individuals: 3377
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variant carriers: 0

GenotypeQuality
all individuals: 19793
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variant carriers: 0

GenotypeQuality
all individuals: 2009
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1953
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65730
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10270
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.170138076293003e-4
allele num: 8546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16208
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.24e-2

FS
type: SiteQuality
SIO_000300: 1.0524e1

MQRankSum
type: SiteQuality
SIO_000300: 1.91e-1

QD
type: SiteQuality
SIO_000300: 1.307e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.345e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.45e-1

DP
type: SiteQuality
SIO_000300: 2.136873e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.5e-1

GenotypeQuality
all individuals: 160
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3376
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
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variant carriers: 0

GenotypeQuality
all individuals: 19074
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variant carriers: 0

GenotypeQuality
all individuals: 11269
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 79
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variant carriers: 0

GenotypeQuality
all individuals: 2008
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65572
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 4.96031746031746e-4
allele num: 16128
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.81e-1

DP
type: SiteQuality
SIO_000300: 2.12795e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.01e0

FS
type: SiteQuality
SIO_000300: 8.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.52e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.276e1

GenotypeQuality
all individuals: 11263
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 18982
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4344
bin: 8.25e1
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GenotypeQuality
all individuals: 3376
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 525
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variant carriers: 0

GenotypeQuality
all individuals: 86
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variant carriers: 0

GenotypeQuality
all individuals: 2007
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variant carriers: 0

GenotypeQuality
all individuals: 67
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variant carriers: 0

GenotypeQuality
all individuals: 66
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variant carriers: 0

GenotypeQuality
all individuals: 5111
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

East Asian
type: Population
allele count: 13
allele frequency: 1.524747830166549e-3
allele num: 8526
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.195019204559534e-5
allele num: 16142
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525646111128063e-5
allele num: 65546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.344e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.89e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

FS
type: SiteQuality
SIO_000300: 1.598e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

DP
type: SiteQuality
SIO_000300: 2.124644e6

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.378e0

GenotypeQuality
all individuals: 5105
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18628
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 294
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variant carriers: 0

GenotypeQuality
all individuals: 3376
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4344
bin: 8.25e1
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GenotypeQuality
all individuals: 2006
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.75e1
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GenotypeQuality
all individuals: 11248
bin: 9.75e1
variant carriers: 4

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.242699142537592e-4
allele num: 16094
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.792401096748923e-5
allele num: 10212
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527370478983382e-5
allele num: 65472
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.73e0

DP
type: SiteQuality
SIO_000300: 2.120153e6

QD
type: SiteQuality
SIO_000300: 1.252e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.32e0

GenotypeQuality
all individuals: 596
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 2.5e0
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GenotypeQuality
all individuals: 3199
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2007
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variant carriers: 0

GenotypeQuality
all individuals: 113
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variant carriers: 0

GenotypeQuality
all individuals: 11247
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 67
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variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.349624060150376e-4
allele num: 8512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.056328127387756e-5
allele num: 65438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10208
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.698677800974252e-5
allele num: 11496
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16096
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.6e-2

DP
type: SiteQuality
SIO_000300: 2.117163e6

VQSLOD
type: SiteQuality
SIO_000300: 2.25e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.336e1

MQRankSum
type: SiteQuality
SIO_000300: -3.06e-1

GenotypeQuality
all individuals: 377
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 741
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 320
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GenotypeQuality
all individuals: 3177
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 4.25e1
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GenotypeQuality
all individuals: 2003
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variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5064
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10160
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16012
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.707767328456984e-5
allele num: 11484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.073257489804054e-4
allele num: 65222
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

FS
type: SiteQuality
SIO_000300: 7.459e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.16e-1

QD
type: SiteQuality
SIO_000300: 1.303e1

MQRankSum
type: SiteQuality
SIO_000300: -9.8e-2

DP
type: SiteQuality
SIO_000300: 2.104429e6

GenotypeQuality
all individuals: 3174
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 816
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11228
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 86
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4327
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17726
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10152
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.067766972420775e-5
allele num: 65194
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16004
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.932e1

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.935e0

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

FS
type: SiteQuality
SIO_000300: 6.77e-1

DP
type: SiteQuality
SIO_000300: 2.099309e6

QD
type: SiteQuality
SIO_000300: 9.57e0

GenotypeQuality
all individuals: 17726
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5057
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3363
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11228
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2002
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4327
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10152
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8478
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533883486210388e-5
allele num: 65194
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16004
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

FS
type: SiteQuality
SIO_000300: 6.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.935e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

QD
type: SiteQuality
SIO_000300: 9.57e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

DP
type: SiteQuality
SIO_000300: 2.099309e6

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.85e-1

GenotypeQuality
all individuals: 3363
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2958
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 816
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2002
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7969
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17726
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5057
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11228
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3174
bin: 7.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8478
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16004
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10152
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533883486210388e-5
allele num: 65194
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.935e0

DP
type: SiteQuality
SIO_000300: 2.099309e6

FS
type: SiteQuality
SIO_000300: 6.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

QD
type: SiteQuality
SIO_000300: 9.57e0

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

GenotypeQuality
all individuals: 408
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2949
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3495
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1928
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3343
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1991
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4283
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12849
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.89873417721519e-4
allele num: 15800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64078
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9840
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8410
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.56e-1

DP
type: SiteQuality
SIO_000300: 2.026207e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.896e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.732e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

MQ
type: SiteQuality
SIO_000300: 5.811e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.111e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.92e-1

GenotypeQuality
all individuals: 1989
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 975
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1464
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4835
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4274
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3340
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11214
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.753463089601964e-4
allele num: 11406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8408
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15700
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63822
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.870000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.163e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

FS
type: SiteQuality
SIO_000300: 7.798e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.79e-1

DP
type: SiteQuality
SIO_000300: 2.01718e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2001
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11210
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1516
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12009
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6364
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4831
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2911
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1987
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.765778401122019e-5
allele num: 11408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63782
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15754
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.72e-1

QD
type: SiteQuality
SIO_000300: 1.112e1

FS
type: SiteQuality
SIO_000300: 2.794e0

VQSLOD
type: SiteQuality
SIO_000300: 9.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.646e0

DP
type: SiteQuality
SIO_000300: 2.015555e6

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

GenotypeQuality
all individuals: 513
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 985
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1293
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1464
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4831
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3336
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4271
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1987
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.567840456555141e-5
allele num: 63782
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15754
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.646e0

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

FS
type: SiteQuality
SIO_000300: 2.794e0

VQSLOD
type: SiteQuality
SIO_000300: 9.28e-1

DP
type: SiteQuality
SIO_000300: 2.015555e6

QD
type: SiteQuality
SIO_000300: 1.112e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

GenotypeQuality
all individuals: 2949
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6568
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4278
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3680
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13596
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1990
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4870
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64062
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9846
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.350819255683983e-5
allele num: 15746
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8420
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

QD
type: SiteQuality
SIO_000300: 8.56e0

MQRankSum
type: SiteQuality
SIO_000300: -4.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.55e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

DP
type: SiteQuality
SIO_000300: 2.012446e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 12648
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1617
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11252
bin: 9.75e1
variant carriers: 78

GenotypeQuality
all individuals: 3662
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4850
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4263
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3331
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8392
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.762705923589205e-5
allele num: 11412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63908
num of homozygotes: 0

African
type: Population
allele count: 77
allele frequency: 7.822023567655425e-3
allele num: 9844
num of homozygotes: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.385696040868455e-5
allele num: 15660
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.52e-1

QD
type: SiteQuality
SIO_000300: 1.442e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.000648e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.25e0

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.7e0

GenotypeQuality
all individuals: 201
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1610
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2917
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12643
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2116
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3605
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6424
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4249
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.568381430363864e-5
allele num: 63760
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8388
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15634
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6442
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.125e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

DP
type: SiteQuality
SIO_000300: 1.996766e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.02e-1

QD
type: SiteQuality
SIO_000300: 9.65e0

FS
type: SiteQuality
SIO_000300: 3.736e0

MQRankSum
type: SiteQuality
SIO_000300: 7.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

GenotypeQuality
all individuals: 13849
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4866
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 5.25e1
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GenotypeQuality
all individuals: 6572
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2094
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1986
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 523
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11190
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 160
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2942
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.561865492143817e-5
allele num: 64026
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8398
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

DP
type: SiteQuality
SIO_000300: 1.994272e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.27e-1

QD
type: SiteQuality
SIO_000300: 1.418e1

GenotypeQuality
all individuals: 4847
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1983
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2166
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3753
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11192
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 3333
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15556
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8386
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.758101243650377e-5
allele num: 11418
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9858
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.346389688399449e-4
allele num: 63928
num of homozygotes: 1

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e0

DP
type: SiteQuality
SIO_000300: 1.989131e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.61e-1

QD
type: SiteQuality
SIO_000300: 1.513e1

GenotypeQuality
all individuals: 3321
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1980
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4823
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2907
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1741
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11166
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 403
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.566268834382733e-5
allele num: 63846
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9828
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8384
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15502
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.589e1

VQSLOD
type: SiteQuality
SIO_000300: 3.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-2

MQ
type: SiteQuality
SIO_000300: 5.958e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.87e-1

DP
type: SiteQuality
SIO_000300: 1.984853e6

GenotypeQuality
all individuals: 6410
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1980
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2227
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11166
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3321
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4823
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.035002035002035e-4
allele num: 9828
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63846
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8384
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11406
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.984853e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

QD
type: SiteQuality
SIO_000300: 1.589e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.87e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-2

GenotypeQuality
all individuals: 2907
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6410
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3700
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1741
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3321
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1562
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1980
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63846
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9828
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.152073732718894e-3
allele num: 868
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8384
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e-1

DP
type: SiteQuality
SIO_000300: 1.984853e6

MQRankSum
type: SiteQuality
SIO_000300: 8.87e-1

QD
type: SiteQuality
SIO_000300: 1.589e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

GenotypeQuality
all individuals: 2277
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4207
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1977
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3317
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 718
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 759
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6427
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11297
bin: 9.75e1
variant carriers: 275

GenotypeQuality
all individuals: 386
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.60546515198035e-4
allele num: 6514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15528
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.065867046147591e-4
allele num: 9838
num of homozygotes: 0

Latino
type: Population
allele count: 49
allele frequency: 4.294478527607362e-3
allele num: 11410
num of homozygotes: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 225
allele frequency: 3.520355477673123e-3
allele num: 63914
num of homozygotes: 1

DP
type: SiteQuality
SIO_000300: 1.981242e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.722e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.76e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.46e1

GenotypeQuality
all individuals: 3616
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4204
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2855
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11094
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 995
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6240
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1273
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3335
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.193032689095681e-4
allele num: 8382
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9812
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.705144291091594e-5
allele num: 63760
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15454
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

QD
type: SiteQuality
SIO_000300: 1.159e1

FS
type: SiteQuality
SIO_000300: 1.486e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.057e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.924e0

VQSLOD
type: SiteQuality
SIO_000300: 3.96e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

DP
type: SiteQuality
SIO_000300: 1.973443e6

GenotypeQuality
all individuals: 379
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5968
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3185
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4722
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1603
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3330
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11087
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1988
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2092
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.575944778894947e-5
allele num: 63454
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11378
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8384
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9738
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15230
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.919999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

DP
type: SiteQuality
SIO_000300: 1.964592e6

MQRankSum
type: SiteQuality
SIO_000300: -4.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.33e-1

QD
type: SiteQuality
SIO_000300: 1.36e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

GenotypeQuality
all individuals: 51151
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 1629
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 744
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1205
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 801
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variant carriers: 0

GenotypeQuality
all individuals: 2213
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1248
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.049034887903129e-4
allele num: 66728
num of homozygotes: 0

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

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.15e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.88e-1

DP
type: SiteQuality
SIO_000300: 4.015735e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.99e0

QD
type: SiteQuality
SIO_000300: 1.55e1

GenotypeQuality
all individuals: 51148
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 2308
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1435
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
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GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1249
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.641e0

VQSLOD
type: SiteQuality
SIO_000300: -2.395e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

DP
type: SiteQuality
SIO_000300: 4.015277e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.83e-1

FS
type: SiteQuality
SIO_000300: 9.16e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.333e0

QD
type: SiteQuality
SIO_000300: 1.388e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 51140
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 731
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1427
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1267
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2413
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1625
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1186
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 801
bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 9.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 2.404e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.879999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.521e1

DP
type: SiteQuality
SIO_000300: 4.015705e6

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

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1181
bin: 7.75e1
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GenotypeQuality
all individuals: 51147
bin: 9.75e1
variant carriers: 289

GenotypeQuality
all individuals: 1425
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2454
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1623
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 37
allele frequency: 5.544898693202254e-4
allele num: 66728
num of homozygotes: 0

Latino
type: Population
allele count: 13
allele frequency: 1.123013130615066e-3
allele num: 11576
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.202643171806168e-3
allele num: 908
num of homozygotes: 0

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

East Asian
type: Population
allele count: 7
allele frequency: 8.088745088976196e-4
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 229
allele frequency: 2.202770296267795e-2
allele num: 10396
num of homozygotes: 2

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

MQRankSum
type: SiteQuality
SIO_000300: 3.25e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

FS
type: SiteQuality
SIO_000300: 1.252e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.41e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.408e0

QD
type: SiteQuality
SIO_000300: 1.3e1

DP
type: SiteQuality
SIO_000300: 4.033239e6

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

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

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51101
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1183
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1428
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2473
bin: 6.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.989813e6

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

VQSLOD
type: SiteQuality
SIO_000300: 8.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.253e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.032e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
all individuals: 731
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1633
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1183
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

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

GenotypeQuality
all individuals: 807
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 2481
bin: 6.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49599856128046e-5
allele num: 66726
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.92e-1

DP
type: SiteQuality
SIO_000300: 3.989727e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.95e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.646e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.149999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.19e1

VQSLOD
type: SiteQuality
SIO_000300: 3.73e0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 1185
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variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1633
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.049003446725611e-4
allele num: 66730
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 2.686e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.38e-1

DP
type: SiteQuality
SIO_000300: 3.990258e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

MQRankSum
type: SiteQuality
SIO_000300: -9.8e-2

MQ
type: SiteQuality
SIO_000300: 5.98e1

QD
type: SiteQuality
SIO_000300: 1.3e1

GenotypeQuality
all individuals: 1267
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1183
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variant carriers: 0

GenotypeQuality
all individuals: 807
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2500
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GenotypeQuality
all individuals: 51101
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 731
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.45e0

MQ
type: SiteQuality
SIO_000300: 5.994e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

VQSLOD
type: SiteQuality
SIO_000300: 3.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e0

DP
type: SiteQuality
SIO_000300: 3.988537e6

QD
type: SiteQuality
SIO_000300: 1.303e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.29e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1184
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2507
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 7.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.736000000000001e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.767e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.07e-1

DP
type: SiteQuality
SIO_000300: 3.988452e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.42e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.082e0

QD
type: SiteQuality
SIO_000300: 1.049e1

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1183
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1268
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51100
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 807
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1429
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.42e0

DP
type: SiteQuality
SIO_000300: 3.988456e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.04e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.15e-1

QD
type: SiteQuality
SIO_000300: 1.069e1

MQ
type: SiteQuality
SIO_000300: 5.6e1

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

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1183
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51100
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1430
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 7.892e0

MQRankSum
type: SiteQuality
SIO_000300: -7.88e0

QD
type: SiteQuality
SIO_000300: 1.281e1

MQ
type: SiteQuality
SIO_000300: 5.579e1

VQSLOD
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SIO_000300: -2.114e1

InbreedingCoeff
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DP
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -5.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.16e-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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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11576
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East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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InbreedingCoeff
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SIO_000300: 0.0e0

FS
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ReadPosRankSum
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QD
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -2.132e0

VQSLOD
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DP
type: SiteQuality
SIO_000300: 3.988515e6

MQ
type: SiteQuality
SIO_000300: 5.981e1

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

Other
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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
allele num: 6614
num of homozygotes: 0

African
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allele frequency: 9.615384615384615e-5
allele num: 10400
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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InbreedingCoeff
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QD
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
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DP
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SIO_000300: 3.988386e6

BaseQRankSum
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ReadPosRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 4.07e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
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allele count: 4
allele frequency: 5.994305409860632e-5
allele num: 66730
num of homozygotes: 0

Latino
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allele count: 0
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num of homozygotes: 0

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.972e1

FS
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

Latino
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allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.34e-1

ReadPosRankSum
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DP
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QD
type: SiteQuality
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BaseQRankSum
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SIO_000300: 4.58e0

InbreedingCoeff
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SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.106e0

ClippingRankSum
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SIO_000300: -1.241e0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.932e1

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

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

Latino
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allele count: 0
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South Asian
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allele frequency: 6.05766900896535e-5
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African
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allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 5.91e1

FS
type: SiteQuality
SIO_000300: 7.7e-1

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

European (Non-Finnish)
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allele num: 66726
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Other
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Latino
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South Asian
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African
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allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 5.994485073732166e-5
allele num: 66728
num of homozygotes: 0

East Asian
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allele num: 8654
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DP
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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FS
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MQRankSum
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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African
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Other
type: Population
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European (Non-Finnish)
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East Asian
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European (Finnish)
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MQ
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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FS
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VQSLOD
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

South Asian
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African
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East Asian
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Latino
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Other
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European (Finnish)
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DP
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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VQSLOD
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FS
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MQ
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ClippingRankSum
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QD
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InbreedingCoeff
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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
all individuals: 719
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.47e-1

QD
type: SiteQuality
SIO_000300: 1.411e1

MQRankSum
type: SiteQuality
SIO_000300: 3.57e-1

FS
type: SiteQuality
SIO_000300: 1.1143e1

VQSLOD
type: SiteQuality
SIO_000300: -1.209e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.98e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.51e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

DP
type: SiteQuality
SIO_000300: 3.98395e6

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1420
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51095
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1170
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1233
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2399
bin: 6.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499745043342632e-5
allele num: 66678
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.983697e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.135e0

FS
type: SiteQuality
SIO_000300: 2.507e0

MQRankSum
type: SiteQuality
SIO_000300: 3.05e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.309e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.2e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 7.25e0

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

GenotypeQuality
all individuals: 806
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1420
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1231
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 715
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1635
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500015000150001e-5
allele num: 66666
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.165e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.996e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.95e-1

DP
type: SiteQuality
SIO_000300: 3.9829e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.19e-1

QD
type: SiteQuality
SIO_000300: 1.044e1

GenotypeQuality
all individuals: 1230
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1635
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51094
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 2343
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1168
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.894635275955229e-4
allele num: 10364
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.729505361466621e-4
allele num: 11564
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.100000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.828e0

DP
type: SiteQuality
SIO_000300: 3.982665e6

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

QD
type: SiteQuality
SIO_000300: 1.284e1