7-107204326-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204326
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204326
    reference: chr 7
allele count: 2
allele frequency: 1.727503584569938e-5
allele num: 115774
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000476238
  ensembl transcript: ENST00000605888
  gene symbol: COG5
  hgvsc: ENST00000605888.1:c.16G>A
  hgvsp: ENSP00000476238.1:p.Gly6Ser
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+135C>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.109G>A
  hgvsp: ENSP00000334703.2:p.Gly37Ser
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.109G>A
  hgvsp: ENSP00000377228.2:p.Gly37Ser
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.109G>A
  hgvsp: ENSP00000297135.3:p.Gly37Ser
  variant of: http://identifiers.org/hgnc/14857
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10698
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40608
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6907
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3875
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3028
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly37Ser
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/7-107204326-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204326
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204326
    reference: chr 7
allele count: 1
allele frequency: 8.63751792284969e-6
allele num: 115774
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.109G>T
  hgvsp: ENSP00000334703.2:p.Gly37Cys
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000476238
  ensembl transcript: ENST00000605888
  gene symbol: COG5
  hgvsc: ENST00000605888.1:c.16G>T
  hgvsp: ENSP00000476238.1:p.Gly6Cys
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.109G>T
  hgvsp: ENSP00000377228.2:p.Gly37Cys
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+135C>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.109G>T
  hgvsp: ENSP00000297135.3:p.Gly37Cys
  variant of: http://identifiers.org/hgnc/14857
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10698
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40608
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3028
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6907
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3875
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly37Cys
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

7-107204327-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204327
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204327
    reference: chr 7
allele count: 1
allele frequency: 8.644985044175873e-6
allele num: 115674
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+136G>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000476238
  ensembl transcript: ENST00000605888
  gene symbol: COG5
  hgvsc: ENST00000605888.1:c.15C>T
  hgvsp: ENST00000605888.1:c.15C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.108C>T
  hgvsp: ENST00000297135.3:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.108C>T
  hgvsp: ENST00000393603.2:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.108C>T
  hgvsp: ENST00000347053.3:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14857
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28077
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3895
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3061
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 792
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly36Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

7-107204327-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204327
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204327
    reference: chr 7
allele count: 52
allele frequency: 4.495392222971454e-4
allele num: 115674
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.108C>G
  hgvsp: ENST00000347053.3:c.108C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000476238
  ensembl transcript: ENST00000605888
  gene symbol: COG5
  hgvsc: ENST00000605888.1:c.15C>G
  hgvsp: ENST00000605888.1:c.15C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+136G>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.108C>G
  hgvsp: ENST00000297135.3:c.108C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.108C>G
  hgvsp: ENST00000393603.2:c.108C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14857
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 10669
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 28077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10864
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 5.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6875
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3061
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly36Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

7-107204332-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204332
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204332
    reference: chr 7
allele count: 1
allele frequency: 8.672575581496193e-6
allele num: 115306
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+141C>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.103G>A
  hgvsp: ENSP00000297135.3:p.Gly35Ser
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000476238
  ensembl transcript: ENST00000605888
  gene symbol: COG5
  hgvsc: ENST00000605888.1:c.10G>A
  hgvsp: ENSP00000476238.1:p.Gly4Ser
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.103G>A
  hgvsp: ENSP00000334703.2:p.Gly35Ser
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.103G>A
  hgvsp: ENSP00000377228.2:p.Gly35Ser
  variant of: http://identifiers.org/hgnc/14857
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40560
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6797
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3357
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly35Ser
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

7-107204334-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204334
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204334
    reference: chr 7
allele count: 1
allele frequency: 8.687191604698033e-6
allele num: 115112
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000476238
  ensembl transcript: ENST00000605888
  gene symbol: COG5
  hgvsc: ENST00000605888.1:c.8G>C
  hgvsp: ENSP00000476238.1:p.Gly3Ala
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+143C>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.101G>C
  hgvsp: ENSP00000377228.2:p.Gly34Ala
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.101G>C
  hgvsp: ENSP00000297135.3:p.Gly34Ala
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.101G>C
  hgvsp: ENSP00000334703.2:p.Gly34Ala
  variant of: http://identifiers.org/hgnc/14857
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27909
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10899
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3561
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3832
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly34Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD

7-107204335-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204335
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204335
    reference: chr 7
allele count: 3
allele frequency: 2.608559553414604e-5
allele num: 115006
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+144C>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.100G>A
  hgvsp: ENSP00000377228.2:p.Gly34Ser
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.100G>A
  hgvsp: ENSP00000334703.2:p.Gly34Ser
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.100G>A
  hgvsp: ENSP00000297135.3:p.Gly34Ser
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000476238
  ensembl transcript: ENST00000605888
  gene symbol: COG5
  hgvsc: ENST00000605888.1:c.7G>A
  hgvsp: ENSP00000476238.1:p.Gly3Ser
  variant of: http://identifiers.org/hgnc/14857
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10521
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10822
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3673
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6767
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3831
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 40462
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly34Ser
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-107204336-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204336
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204336
    reference: chr 7
allele count: 1
allele frequency: 8.703068702024334e-6
allele num: 114902
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+145T>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.99A>G
  hgvsp: ENST00000393603.2:c.99A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000476238
  ensembl transcript: ENST00000605888
  gene symbol: COG5
  hgvsc: ENST00000605888.1:c.6A>G
  hgvsp: ENST00000605888.1:c.6A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.99A>G
  hgvsp: ENST00000347053.3:c.99A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.99A>G
  hgvsp: ENST00000297135.3:c.99A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14857
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27818
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3838
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40317
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu33Glu
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/7-107204340-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204340
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204340
    reference: chr 7
allele count: 1
allele frequency: 8.751816001820377e-6
allele num: 114262
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.95T>G
  hgvsp: ENSP00000334703.2:p.Met32Arg
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+149A>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000476238
  ensembl transcript: ENST00000605888
  gene symbol: COG5
  hgvsc: ENST00000605888.1:c.2T>G
  hgvsp: ENSP00000476238.1:p.Met1?
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.95T>G
  hgvsp: ENSP00000297135.3:p.Met32Arg
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.95T>G
  hgvsp: ENSP00000377228.2:p.Met32Arg
  variant of: http://identifiers.org/hgnc/14857
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10482
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4410
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6701
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39873
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

7-107204340-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204340
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204340
    reference: chr 7
allele count: 1
allele frequency: 8.751816001820377e-6
allele num: 114262
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.95T>A
  hgvsp: ENSP00000377228.2:p.Met32Lys
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000476238
  ensembl transcript: ENST00000605888
  gene symbol: COG5
  hgvsc: ENST00000605888.1:c.2T>A
  hgvsp: ENSP00000476238.1:p.Met1?
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+149A>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.95T>A
  hgvsp: ENSP00000297135.3:p.Met32Lys
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.95T>A
  hgvsp: ENSP00000334703.2:p.Met32Lys
  variant of: http://identifiers.org/hgnc/14857
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39873
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4410
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3820
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Met1?
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

7-107204342-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204342
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204342
    reference: chr 7
allele count: 3
allele frequency: 2.64298551643937e-5
allele num: 113508
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+151G>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.93C>T
  hgvsp: ENST00000393603.2:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000476238
  ensembl transcript: ENST00000605888
  gene symbol: COG5
  hgvsc: ENST00000605888.1:c.-1C>T
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.93C>T
  hgvsp: ENST00000347053.3:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.93C>T
  hgvsp: ENST00000297135.3:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14857
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10228
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4996
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn31Asn
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP

7-107204343-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204343
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204343
    reference: chr 7
allele count: 4
allele frequency: 3.523546096791811e-5
allele num: 113522
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000476238
  ensembl transcript: ENST00000605888
  gene symbol: COG5
  hgvsc: ENST00000605888.1:c.-2A>C
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.92A>C
  hgvsp: ENSP00000297135.3:p.Asn31Thr
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.92A>C
  hgvsp: ENSP00000334703.2:p.Asn31Thr
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.92A>C
  hgvsp: ENSP00000377228.2:p.Asn31Thr
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+152T>G
  variant of: http://identifiers.org/hgnc/21517
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10281
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6524
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3816
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5013
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn31Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

7-107204344-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204344
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204344
    reference: chr 7
allele count: 2
allele frequency: 1.764539808018069e-5
allele num: 113344
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000476238
  ensembl transcript: ENST00000605888
  gene symbol: COG5
  hgvsc: ENST00000605888.1:c.-3A>G
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.91A>G
  hgvsp: ENSP00000377228.2:p.Asn31Asp
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.91A>G
  hgvsp: ENSP00000297135.3:p.Asn31Asp
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.91A>G
  hgvsp: ENSP00000334703.2:p.Asn31Asp
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+153T>C
  variant of: http://identifiers.org/hgnc/21517
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26999
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10230
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38967
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5200
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6521
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn31Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

7-107204348-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204348
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204348
    reference: chr 7
allele count: 1
allele frequency: 8.911067545891997e-6
allele num: 112220
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+157A>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000476238
  ensembl transcript: ENST00000605888
  gene symbol: COG5
  hgvsc: ENST00000605888.1:c.-7T>C
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.87T>C
  hgvsp: ENST00000297135.3:c.87T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.87T>C
  hgvsp: ENST00000393603.2:c.87T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.87T>C
  hgvsp: ENST00000347053.3:c.87T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14857
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3731
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10026
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3799
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38065
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6072
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro29Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

7-107204348-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204348
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204348
    reference: chr 7
allele count: 1
allele frequency: 8.911067545891997e-6
allele num: 112220
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.87T>A
  hgvsp: ENST00000297135.3:c.87T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.87T>A
  hgvsp: ENST00000393603.2:c.87T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+157A>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000476238
  ensembl transcript: ENST00000605888
  gene symbol: COG5
  hgvsc: ENST00000605888.1:c.-7T>A
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.87T>A
  hgvsp: ENST00000347053.3:c.87T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14857
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10026
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3731
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38065
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3799
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6248
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro29Pro
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

7-107204349-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204349
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204349
    reference: chr 7
allele count: 1
allele frequency: 8.938467589116521e-6
allele num: 111876
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000476238
  ensembl transcript: ENST00000605888
  gene symbol: COG5
  hgvsc: ENST00000605888.1:c.-8C>T
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+158G>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.86C>T
  hgvsp: ENSP00000334703.2:p.Pro29Leu
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.86C>T
  hgvsp: ENSP00000297135.3:p.Pro29Leu
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.86C>T
  hgvsp: ENSP00000377228.2:p.Pro29Leu
  variant of: http://identifiers.org/hgnc/14857
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3374
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6345
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37832
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro29Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

7-107204350-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204350
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204350
    reference: chr 7
allele count: 1
allele frequency: 8.997984451482868e-6
allele num: 111136
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.85C>T
  hgvsp: ENSP00000297135.3:p.Pro29Ser
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+159G>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.85C>T
  hgvsp: ENSP00000377228.2:p.Pro29Ser
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000476238
  ensembl transcript: ENST00000605888
  gene symbol: COG5
  hgvsc: ENST00000605888.1:c.-9C>T
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.85C>T
  hgvsp: ENSP00000334703.2:p.Pro29Ser
  variant of: http://identifiers.org/hgnc/14857
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36872
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3796
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6062
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7056
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro29Ser
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

7-107204351-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204351
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204351
    reference: chr 7
allele count: 1
allele frequency: 9.0046283789868e-6
allele num: 111054
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.84A>C
  hgvsp: ENST00000297135.3:c.84A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.84A>C
  hgvsp: ENST00000347053.3:c.84A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000476238
  ensembl transcript: ENST00000605888
  gene symbol: COG5
  hgvsc: ENST00000605888.1:c.-10A>C
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.84A>C
  hgvsp: ENST00000393603.2:c.84A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+160T>G
  variant of: http://identifiers.org/hgnc/21517
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25743
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3779
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7063
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37042
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala28Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum

7-107204356-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204356
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204356
    reference: chr 7
allele count: 2
allele frequency: 1.849078234500102e-5
allele num: 108162
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.79C>T
  hgvsp: ENSP00000297135.3:p.Pro27Ser
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.79C>T
  hgvsp: ENSP00000377228.2:p.Pro27Ser
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.79C>T
  hgvsp: ENSP00000334703.2:p.Pro27Ser
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+165G>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000476238
  ensembl transcript: ENST00000605888
  gene symbol: COG5
  hgvsc: ENST00000605888.1:c.-15C>T
  variant of: http://identifiers.org/hgnc/14857
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8838
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5609
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9142
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3770
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9635
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34668
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro27Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/7-107204361-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204361
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204361
    reference: chr 7
allele count: 1
allele frequency: 9.475080538184574e-6
allele num: 105540
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.74T>G
  hgvsp: ENSP00000297135.3:p.Ile25Ser
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.74T>G
  hgvsp: ENSP00000334703.2:p.Ile25Ser
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+170A>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.74T>G
  hgvsp: ENSP00000377228.2:p.Ile25Ser
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000476238
  ensembl transcript: ENST00000605888
  gene symbol: COG5
  hgvsc: ENST00000605888.1:c.-20T>G
  variant of: http://identifiers.org/hgnc/14857
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6877
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8627
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32451
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12221
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3766
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile25Ser
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP

7-107204366-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204366
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204366
    reference: chr 7
allele count: 1
allele frequency: 9.958969047524201e-6
allele num: 100412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000476238
  ensembl transcript: ENST00000605888
  gene symbol: COG5
  hgvsc: ENST00000605888.1:c.-25C>A
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.69C>A
  hgvsp: ENSP00000297135.3:p.Asp23Glu
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.69C>A
  hgvsp: ENSP00000334703.2:p.Asp23Glu
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.69C>A
  hgvsp: ENSP00000377228.2:p.Asp23Glu
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+175G>T
  variant of: http://identifiers.org/hgnc/21517
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6743
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9093
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19016
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3763
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16769
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4259
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp23Glu
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

7-107204369-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204369
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204369
    reference: chr 7
allele count: 3
allele frequency: 3.040561084872195e-5
allele num: 98666
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000476238
  ensembl transcript: ENST00000605888
  gene symbol: COG5
  hgvsc: ENST00000605888.1:c.-28T>C
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+178A>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.66T>C
  hgvsp: ENST00000393603.2:c.66T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.66T>C
  hgvsp: ENST00000297135.3:c.66T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.66T>C
  hgvsp: ENST00000347053.3:c.66T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14857
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6138
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10766
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9948
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17770
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4125
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3763
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18576
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25712
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala22Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

7-107204371-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204371
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204371
    reference: chr 7
allele count: 892
allele frequency: 9.381770756641915e-3
allele num: 95078
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.64G>A
  hgvsp: ENSP00000334703.2:p.Ala22Thr
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.64G>A
  hgvsp: ENSP00000297135.3:p.Ala22Thr
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000476238
  ensembl transcript: ENST00000605888
  gene symbol: COG5
  hgvsc: ENST00000605888.1:c.-30G>A
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+180C>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.64G>A
  hgvsp: ENSP00000377228.2:p.Ala22Thr
  variant of: http://identifiers.org/hgnc/14857
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 5116
  bin: 3.25e1
  variant carriers: 109
genotype depth: GenotypeDepth
  all individuals: 6862
  bin: 2.25e1
  variant carriers: 168
genotype depth: GenotypeDepth
  all individuals: 11345
  bin: 7.5e0
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 3.75e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15430
  bin: 2.75e1
  variant carriers: 155
genotype depth: GenotypeDepth
  all individuals: 12739
  bin: 1.25e1
  variant carriers: 107
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 1.75e1
  variant carriers: 147
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.25e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 4500
  bin: 9.75e1
  variant carriers: 823
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21389
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22210
  bin: 6.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 5.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 8.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 8.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 3.75e1
  variant carriers: 3
hgvs: p.Ala22Thr
num of homozygotes: 36
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

7-107204373-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204373
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204373
    reference: chr 7
allele count: 8
allele frequency: 8.606592649969878e-5
allele num: 92952
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000476238
  ensembl transcript: ENST00000605888
  gene symbol: COG5
  hgvsc: ENST00000605888.1:c.-32C>G
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.62C>G
  hgvsp: ENSP00000377228.2:p.Ala21Gly
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.62C>G
  hgvsp: ENSP00000297135.3:p.Ala21Gly
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.62C>G
  hgvsp: ENSP00000334703.2:p.Ala21Gly
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+182G>C
  variant of: http://identifiers.org/hgnc/21517
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4546
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13815
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6555
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14336
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23217
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1807
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3700
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 20879
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1604
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1781
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala21Gly
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

7-107204376-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204376
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204376
    reference: chr 7
allele count: 1
allele frequency: 1.133606910467726e-5
allele num: 88214
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.59C>T
  hgvsp: ENSP00000297135.3:p.Ser20Phe
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.59C>T
  hgvsp: ENSP00000377228.2:p.Ser20Phe
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+185G>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000476238
  ensembl transcript: ENST00000605888
  gene symbol: COG5
  hgvsc: ENST00000605888.1:c.-35C>T
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.59C>T
  hgvsp: ENSP00000334703.2:p.Ser20Phe
  variant of: http://identifiers.org/hgnc/14857
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14053
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2327
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16210
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26733
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1837
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser20Phe
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

7-107204377-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204377
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204377
    reference: chr 7
allele count: 3
allele frequency: 3.400435255712731e-5
allele num: 88224
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000476238
  ensembl transcript: ENST00000605888
  gene symbol: COG5
  hgvsc: ENST00000605888.1:c.-36T>C
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.58T>C
  hgvsp: ENSP00000334703.2:p.Ser20Pro
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+186A>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.58T>C
  hgvsp: ENSP00000377228.2:p.Ser20Pro
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.58T>C
  hgvsp: ENSP00000297135.3:p.Ser20Pro
  variant of: http://identifiers.org/hgnc/14857
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3171
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6050
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16132
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1823
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26875
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2110
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3694
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 434
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 2339
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 473
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 8.75e1
  variant carriers: 1
hgvs: p.Ser20Pro
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

7-107204392-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204392
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204392
    reference: chr 7
allele count: 1
allele frequency: 1.37294744357186e-5
allele num: 72836
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.43C>T
  hgvsp: ENSP00000297135.3:p.Pro15Ser
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.43C>T
  hgvsp: ENSP00000377228.2:p.Pro15Ser
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.43C>T
  hgvsp: ENSP00000334703.2:p.Pro15Ser
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+201G>A
  variant of: http://identifiers.org/hgnc/21517
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4382
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.75e1
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4993
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 233
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 1917
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 192
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genotype quality: GenotypeQuality
  all individuals: 437
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genotype quality: GenotypeQuality
  all individuals: 34230
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3689
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genotype quality: GenotypeQuality
  all individuals: 269
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genotype quality: GenotypeQuality
  all individuals: 207
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro15Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

7-107204394-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204394
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204394
    reference: chr 7
allele count: 2
allele frequency: 2.83149757906957e-5
allele num: 70634
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.41C>T
  hgvsp: ENSP00000334703.2:p.Pro14Leu
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.41C>T
  hgvsp: ENSP00000377228.2:p.Pro14Leu
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+203G>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.41C>T
  hgvsp: ENSP00000297135.3:p.Pro14Leu
  variant of: http://identifiers.org/hgnc/14857
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4879
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2507
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1884
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6664
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34655
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5594
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3688
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Pro14Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
reference allele: G
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

7-107204398-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204398
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204398
    reference: chr 7
allele count: 3
allele frequency: 4.52420449404313e-5
allele num: 66310
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+207A>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.37T>C
  hgvsp: ENSP00000377228.2:p.Ser13Pro
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.37T>C
  hgvsp: ENSP00000334703.2:p.Ser13Pro
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.37T>C
  hgvsp: ENSP00000297135.3:p.Ser13Pro
  variant of: http://identifiers.org/hgnc/14857
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6309
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19420
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3689
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 7212
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35200
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1871
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser13Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

7-107204400-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204400
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204400
    reference: chr 7
allele count: 5
allele frequency: 8.343066911396629e-5
allele num: 59930
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.35C>T
  hgvsp: ENSP00000377228.2:p.Ala12Val
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.35C>T
  hgvsp: ENSP00000334703.2:p.Ala12Val
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+209G>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.35C>T
  hgvsp: ENSP00000297135.3:p.Ala12Val
  variant of: http://identifiers.org/hgnc/14857
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20990
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18789
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3209
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1691
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2266
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34006
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1411
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9223
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3691
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala12Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD

7-107204400-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204400
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204400
    reference: chr 7
allele count: 2
allele frequency: 3.337226764558652e-5
allele num: 59930
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.35C>G
  hgvsp: ENSP00000377228.2:p.Ala12Gly
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.35C>G
  hgvsp: ENSP00000297135.3:p.Ala12Gly
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.35C>G
  hgvsp: ENSP00000334703.2:p.Ala12Gly
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+209G>C
  variant of: http://identifiers.org/hgnc/21517
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20990
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18789
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1411
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3209
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9223
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34006
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3691
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1691
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala12Gly
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

7-107204403-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204403
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204403
    reference: chr 7
allele count: 1
allele frequency: 1.851783267286397e-5
allele num: 54002
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000402887
  ensembl transcript: ENST00000422290
  gene symbol: DUS4L
  hgvsc: ENST00000422290.1:c.-362G>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+212G>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000265720
  ensembl transcript: ENST00000265720
  gene symbol: DUS4L
  hgvsc: ENST00000265720.3:c.-362G>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.32C>G
  hgvsp: ENSP00000297135.3:p.Ser11Cys
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.32C>G
  hgvsp: ENSP00000377228.2:p.Ser11Cys
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.32C>G
  hgvsp: ENSP00000334703.2:p.Ser11Cys
  variant of: http://identifiers.org/hgnc/14857
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17401
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21506
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10320
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11437
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2122
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2254
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1604
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser11Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/7-107204409-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204409
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204409
    reference: chr 7
allele count: 2
allele frequency: 4.829051574270813e-5
allele num: 41416
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000265720
  ensembl transcript: ENST00000265720
  gene symbol: DUS4L
  hgvsc: ENST00000265720.3:c.-356C>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.26G>T
  hgvsp: ENSP00000377228.2:p.Arg9Leu
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+218C>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.26G>T
  hgvsp: ENSP00000334703.2:p.Arg9Leu
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000402887
  ensembl transcript: ENST00000422290
  gene symbol: DUS4L
  hgvsc: ENST00000422290.1:c.-356C>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.26G>T
  hgvsp: ENSP00000297135.3:p.Arg9Leu
  variant of: http://identifiers.org/hgnc/14857
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22996
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13585
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14312
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3336
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14989
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg9Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

7-107204410-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204410
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204410
    reference: chr 7
allele count: 1
allele frequency: 2.419901268028265e-5
allele num: 41324
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000265720
  ensembl transcript: ENST00000265720
  gene symbol: DUS4L
  hgvsc: ENST00000265720.3:c.-355G>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.25C>G
  hgvsp: ENSP00000377228.2:p.Arg9Gly
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000402887
  ensembl transcript: ENST00000422290
  gene symbol: DUS4L
  hgvsc: ENST00000422290.1:c.-355G>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.25C>G
  hgvsp: ENSP00000334703.2:p.Arg9Gly
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.25C>G
  hgvsp: ENSP00000297135.3:p.Arg9Gly
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+219G>C
  variant of: http://identifiers.org/hgnc/21517
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13390
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14432
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2960
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15101
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28514
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3685
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg9Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/7-107204415-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204415
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204415
    reference: chr 7
allele count: 1
allele frequency: 2.729555628343706e-5
allele num: 36636
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.20G>T
  hgvsp: ENSP00000297135.3:p.Arg7Leu
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000265720
  ensembl transcript: ENST00000265720
  gene symbol: DUS4L
  hgvsc: ENST00000265720.3:c.-350C>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.20G>T
  hgvsp: ENSP00000334703.2:p.Arg7Leu
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+224C>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.20G>T
  hgvsp: ENSP00000377228.2:p.Arg7Leu
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000402887
  ensembl transcript: ENST00000422290
  gene symbol: DUS4L
  hgvsc: ENST00000422290.1:c.-350C>A
  variant of: http://identifiers.org/hgnc/21517
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11521
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16473
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23554
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1661
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16945
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26850
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3685
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1362
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg7Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

7-107204418-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204418
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204418
    reference: chr 7
allele count: 1
allele frequency: 2.867136877114513e-5
allele num: 34878
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.17G>C
  hgvsp: ENSP00000377228.2:p.Gly6Ala
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000402887
  ensembl transcript: ENST00000422290
  gene symbol: DUS4L
  hgvsc: ENST00000422290.1:c.-347C>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.17G>C
  hgvsp: ENSP00000334703.2:p.Gly6Ala
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.17G>C
  hgvsp: ENSP00000297135.3:p.Gly6Ala
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000265720
  ensembl transcript: ENST00000265720
  gene symbol: DUS4L
  hgvsc: ENST00000265720.3:c.-347C>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+227C>G
  variant of: http://identifiers.org/hgnc/21517
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23449
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17527
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10719
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3684
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27288
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17991
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly6Ala
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

7-107204433-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204433
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204433
    reference: chr 7
allele count: 7
allele frequency: 2.994268115322097e-4
allele num: 23378
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+242A>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.2T>C
  hgvsp: ENSP00000334703.2:p.Met1?
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388904
  ensembl transcript: ENST00000431839
  gene symbol: DUS4L
  hgvsc: ENST00000431839.1:c.-182A>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.2T>C
  hgvsp: ENSP00000377228.2:p.Met1?
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000402887
  ensembl transcript: ENST00000422290
  gene symbol: DUS4L
  hgvsc: ENST00000422290.1:c.-332A>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388061
  ensembl transcript: ENST00000443233
  gene symbol: DUS4L
  hgvsc: ENST00000443233.1:c.-370A>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000385274
  ensembl transcript: ENST00000402620
  gene symbol: DUS4L
  hgvsc: ENST00000402620.1:c.-427A>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000265720
  ensembl transcript: ENST00000265720
  gene symbol: DUS4L
  hgvsc: ENST00000265720.3:c.-332A>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.2T>C
  hgvsp: ENSP00000297135.3:p.Met1?
  variant of: http://identifiers.org/hgnc/14857
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5812
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20105
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 25604
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25659
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 1
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum

7-107204434-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204434
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204434
    reference: chr 7
allele count: 1
allele frequency: 4.374070510016621e-5
allele num: 22862
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.1A>T
  hgvsp: ENSP00000377228.2:p.Met1?
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.1A>T
  hgvsp: ENSP00000334703.2:p.Met1?
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.1A>T
  hgvsp: ENSP00000297135.3:p.Met1?
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388904
  ensembl transcript: ENST00000431839
  gene symbol: DUS4L
  hgvsc: ENST00000431839.1:c.-181T>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388061
  ensembl transcript: ENST00000443233
  gene symbol: DUS4L
  hgvsc: ENST00000443233.1:c.-369T>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+243T>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000385274
  ensembl transcript: ENST00000402620
  gene symbol: DUS4L
  hgvsc: ENST00000402620.1:c.-426T>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000402887
  ensembl transcript: ENST00000422290
  gene symbol: DUS4L
  hgvsc: ENST00000422290.1:c.-331T>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000265720
  ensembl transcript: ENST00000265720
  gene symbol: DUS4L
  hgvsc: ENST00000265720.3:c.-331T>A
  variant of: http://identifiers.org/hgnc/21517
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5618
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26016
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19799
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1747
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2186
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

7-107204434-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204434
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204434
    reference: chr 7
allele count: 1
allele frequency: 4.374070510016621e-5
allele num: 22862
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.1A>C
  hgvsp: ENSP00000377228.2:p.Met1?
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000265720
  ensembl transcript: ENST00000265720
  gene symbol: DUS4L
  hgvsc: ENST00000265720.3:c.-331T>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+243T>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388061
  ensembl transcript: ENST00000443233
  gene symbol: DUS4L
  hgvsc: ENST00000443233.1:c.-369T>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.1A>C
  hgvsp: ENSP00000334703.2:p.Met1?
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000385274
  ensembl transcript: ENST00000402620
  gene symbol: DUS4L
  hgvsc: ENST00000402620.1:c.-426T>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000402887
  ensembl transcript: ENST00000422290
  gene symbol: DUS4L
  hgvsc: ENST00000422290.1:c.-331T>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.1A>C
  hgvsp: ENSP00000297135.3:p.Met1?
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388904
  ensembl transcript: ENST00000431839
  gene symbol: DUS4L
  hgvsc: ENST00000431839.1:c.-181T>G
  variant of: http://identifiers.org/hgnc/21517
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19799
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5618
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26016
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1747
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2186
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/7-107204439-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204439
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204439
    reference: chr 7
allele count: 6
allele frequency: 2.897151134717528e-4
allele num: 20710
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388061
  ensembl transcript: ENST00000443233
  gene symbol: DUS4L
  hgvsc: ENST00000443233.1:c.-364C>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+248C>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.-5G>T
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000385274
  ensembl transcript: ENST00000402620
  gene symbol: DUS4L
  hgvsc: ENST00000402620.1:c.-421C>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000265720
  ensembl transcript: ENST00000265720
  gene symbol: DUS4L
  hgvsc: ENST00000265720.3:c.-326C>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388904
  ensembl transcript: ENST00000431839
  gene symbol: DUS4L
  hgvsc: ENST00000431839.1:c.-176C>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000402887
  ensembl transcript: ENST00000422290
  gene symbol: DUS4L
  hgvsc: ENST00000422290.1:c.-326C>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.-5G>T
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.-5G>T
  variant of: http://identifiers.org/hgnc/14857
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28297
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17961
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4651
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2155
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28209
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16445
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD

7-107204440-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204440
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204440
    reference: chr 7
allele count: 119
allele frequency: 5.753239218719783e-3
allele num: 20684
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388061
  ensembl transcript: ENST00000443233
  gene symbol: DUS4L
  hgvsc: ENST00000443233.1:c.-363C>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388904
  ensembl transcript: ENST00000431839
  gene symbol: DUS4L
  hgvsc: ENST00000431839.1:c.-175C>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000265720
  ensembl transcript: ENST00000265720
  gene symbol: DUS4L
  hgvsc: ENST00000265720.3:c.-325C>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000385274
  ensembl transcript: ENST00000402620
  gene symbol: DUS4L
  hgvsc: ENST00000402620.1:c.-420C>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000402887
  ensembl transcript: ENST00000422290
  gene symbol: DUS4L
  hgvsc: ENST00000422290.1:c.-325C>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.-6G>A
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.-6G>A
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.-6G>A
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+249C>T
  variant of: http://identifiers.org/hgnc/21517
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 1.25e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17975
  bin: 7.5e0
  variant carriers: 159
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28329
  bin: 2.5e0
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1420
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16740
  bin: 2.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 8.75e1
  variant carriers: 6
num of homozygotes: 1
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

7-107204441-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204441
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204441
    reference: chr 7
allele count: 7
allele frequency: 3.486403028190059e-4
allele num: 20078
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000402887
  ensembl transcript: ENST00000422290
  gene symbol: DUS4L
  hgvsc: ENST00000422290.1:c.-324A>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388904
  ensembl transcript: ENST00000431839
  gene symbol: DUS4L
  hgvsc: ENST00000431839.1:c.-174A>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.-7T>C
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.-7T>C
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388061
  ensembl transcript: ENST00000443233
  gene symbol: DUS4L
  hgvsc: ENST00000443233.1:c.-362A>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+250A>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000265720
  ensembl transcript: ENST00000265720
  gene symbol: DUS4L
  hgvsc: ENST00000265720.3:c.-324A>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.-7T>C
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000385274
  ensembl transcript: ENST00000402620
  gene symbol: DUS4L
  hgvsc: ENST00000402620.1:c.-419A>G
  variant of: http://identifiers.org/hgnc/21517
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17386
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 29058
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1405
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

7-107204442-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204442
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204442
    reference: chr 7
allele count: 6
allele frequency: 3.224419604471195e-4
allele num: 18608
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.-8C>T
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000402887
  ensembl transcript: ENST00000422290
  gene symbol: DUS4L
  hgvsc: ENST00000422290.1:c.-323G>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000265720
  ensembl transcript: ENST00000265720
  gene symbol: DUS4L
  hgvsc: ENST00000265720.3:c.-323G>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388904
  ensembl transcript: ENST00000431839
  gene symbol: DUS4L
  hgvsc: ENST00000431839.1:c.-173G>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.-8C>T
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+251G>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388061
  ensembl transcript: ENST00000443233
  gene symbol: DUS4L
  hgvsc: ENST00000443233.1:c.-361G>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.-8C>T
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000385274
  ensembl transcript: ENST00000402620
  gene symbol: DUS4L
  hgvsc: ENST00000402620.1:c.-418G>A
  variant of: http://identifiers.org/hgnc/21517
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30315
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16269
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2118
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3681
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 13381
  bin: 2.25e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

7-107204445-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204445
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204445
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 18104
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000402887
  ensembl transcript: ENST00000422290
  gene symbol: DUS4L
  hgvsc: ENST00000422290.1:c.-320C>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388061
  ensembl transcript: ENST00000443233
  gene symbol: DUS4L
  hgvsc: ENST00000443233.1:c.-358C>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000385274
  ensembl transcript: ENST00000402620
  gene symbol: DUS4L
  hgvsc: ENST00000402620.1:c.-415C>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388904
  ensembl transcript: ENST00000431839
  gene symbol: DUS4L
  hgvsc: ENST00000431839.1:c.-170C>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.-11G>A
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.-11G>A
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000412739
  ensembl transcript: ENST00000436411
  gene symbol: DUS4L
  hgvsc: ENST00000436411.1:c.-698C>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000265720
  ensembl transcript: ENST00000265720
  gene symbol: DUS4L
  hgvsc: ENST00000265720.3:c.-320C>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.-11G>A
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+254C>T
  variant of: http://identifiers.org/hgnc/21517
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30935
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15857
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3463
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2091
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

7-107204448-CCTGGCGAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204448
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204440
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 17240
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388904
  ensembl transcript: ENST00000431839
  gene symbol: DUS4L
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000385274
  ensembl transcript: ENST00000402620
  gene symbol: DUS4L
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388061
  ensembl transcript: ENST00000443233
  gene symbol: DUS4L
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000265720
  ensembl transcript: ENST00000265720
  gene symbol: DUS4L
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000412739
  ensembl transcript: ENST00000436411
  gene symbol: DUS4L
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.-22_-15delTTCGCCAG
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.-22_-15delTTCGCCAG
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000402887
  ensembl transcript: ENST00000422290
  gene symbol: DUS4L
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.-22_-15delTTCGCCAG
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  variant of: http://identifiers.org/hgnc/21517
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15034
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31958
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: CCTGGCGAA
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

7-107204451-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204451
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204451
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 16366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000412739
  ensembl transcript: ENST00000436411
  gene symbol: DUS4L
  hgvsc: ENST00000436411.1:c.-692G>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.-17C>T
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000265720
  ensembl transcript: ENST00000265720
  gene symbol: DUS4L
  hgvsc: ENST00000265720.3:c.-314G>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000385274
  ensembl transcript: ENST00000402620
  gene symbol: DUS4L
  hgvsc: ENST00000402620.1:c.-409G>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388061
  ensembl transcript: ENST00000443233
  gene symbol: DUS4L
  hgvsc: ENST00000443233.1:c.-352G>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.-17C>T
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388904
  ensembl transcript: ENST00000431839
  gene symbol: DUS4L
  hgvsc: ENST00000431839.1:c.-164G>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+260G>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.-17C>T
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000402887
  ensembl transcript: ENST00000422290
  gene symbol: DUS4L
  hgvsc: ENST00000422290.1:c.-314G>A
  variant of: http://identifiers.org/hgnc/21517
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32965
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14046
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2089
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD

7-107204460-ACT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204460
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204458
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 14390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388061
  ensembl transcript: ENST00000443233
  gene symbol: DUS4L
  hgvsc: ENST00000443233.1:c.-339_-338delTC
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.-28_-27delAG
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000265720
  ensembl transcript: ENST00000265720
  gene symbol: DUS4L
  hgvsc: ENST00000265720.3:c.-301_-300delTC
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000402887
  ensembl transcript: ENST00000422290
  gene symbol: DUS4L
  hgvsc: ENST00000422290.1:c.-301_-300delTC
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.-28_-27delAG
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388904
  ensembl transcript: ENST00000431839
  gene symbol: DUS4L
  hgvsc: ENST00000431839.1:c.-151_-150delTC
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+273_263+274delTC
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.-28_-27delAG
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000412739
  ensembl transcript: ENST00000436411
  gene symbol: DUS4L
  hgvsc: ENST00000436411.1:c.-679_-678delTC
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000385274
  ensembl transcript: ENST00000402620
  gene symbol: DUS4L
  hgvsc: ENST00000402620.1:c.-396_-395delTC
  variant of: http://identifiers.org/hgnc/21517
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34891
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11373
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: ACT
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ

7-107204461-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204461
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204461
    reference: chr 7
allele count: 1
allele frequency: 7.08114997875655e-5
allele num: 14122
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000265720
  ensembl transcript: ENST00000265720
  gene symbol: DUS4L
  hgvsc: ENST00000265720.3:c.-304C>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388904
  ensembl transcript: ENST00000431839
  gene symbol: DUS4L
  hgvsc: ENST00000431839.1:c.-154C>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.-27G>A
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388061
  ensembl transcript: ENST00000443233
  gene symbol: DUS4L
  hgvsc: ENST00000443233.1:c.-342C>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000412739
  ensembl transcript: ENST00000436411
  gene symbol: DUS4L
  hgvsc: ENST00000436411.1:c.-682C>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.-27G>A
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000385274
  ensembl transcript: ENST00000402620
  gene symbol: DUS4L
  hgvsc: ENST00000402620.1:c.-399C>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.-27G>A
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000402887
  ensembl transcript: ENST00000422290
  gene symbol: DUS4L
  hgvsc: ENST00000422290.1:c.-304C>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+270C>T
  variant of: http://identifiers.org/hgnc/21517
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10993
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6360
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3338
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

7-107204467-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204467
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204467
    reference: chr 7
allele count: 1
allele frequency: 7.623113279463333e-5
allele num: 13118
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000265720
  ensembl transcript: ENST00000265720
  gene symbol: DUS4L
  hgvsc: ENST00000265720.3:c.-298G>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.-33C>T
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+276G>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.-33C>T
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000385274
  ensembl transcript: ENST00000402620
  gene symbol: DUS4L
  hgvsc: ENST00000402620.1:c.-393G>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388061
  ensembl transcript: ENST00000443233
  gene symbol: DUS4L
  hgvsc: ENST00000443233.1:c.-336G>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000402887
  ensembl transcript: ENST00000422290
  gene symbol: DUS4L
  hgvsc: ENST00000422290.1:c.-298G>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388904
  ensembl transcript: ENST00000431839
  gene symbol: DUS4L
  hgvsc: ENST00000431839.1:c.-148G>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000412739
  ensembl transcript: ENST00000436411
  gene symbol: DUS4L
  hgvsc: ENST00000436411.1:c.-676G>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.-33C>T
  variant of: http://identifiers.org/hgnc/14857
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35245
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4396
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

7-107204467-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204467
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204467
    reference: chr 7
allele count: 1
allele frequency: 7.623113279463333e-5
allele num: 13118
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000412739
  ensembl transcript: ENST00000436411
  gene symbol: DUS4L
  hgvsc: ENST00000436411.1:c.-676G>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388904
  ensembl transcript: ENST00000431839
  gene symbol: DUS4L
  hgvsc: ENST00000431839.1:c.-148G>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.-33C>A
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+276G>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000385274
  ensembl transcript: ENST00000402620
  gene symbol: DUS4L
  hgvsc: ENST00000402620.1:c.-393G>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.-33C>A
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000402887
  ensembl transcript: ENST00000422290
  gene symbol: DUS4L
  hgvsc: ENST00000422290.1:c.-298G>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000265720
  ensembl transcript: ENST00000265720
  gene symbol: DUS4L
  hgvsc: ENST00000265720.3:c.-298G>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.-33C>A
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388061
  ensembl transcript: ENST00000443233
  gene symbol: DUS4L
  hgvsc: ENST00000443233.1:c.-336G>T
  variant of: http://identifiers.org/hgnc/21517
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35245
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

7-107204480-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204480
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204480
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 12122
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.-46G>C
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000402887
  ensembl transcript: ENST00000422290
  gene symbol: DUS4L
  hgvsc: ENST00000422290.1:c.-285C>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.-46G>C
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388904
  ensembl transcript: ENST00000431839
  gene symbol: DUS4L
  hgvsc: ENST00000431839.1:c.-135C>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000265720
  ensembl transcript: ENST00000265720
  gene symbol: DUS4L
  hgvsc: ENST00000265720.3:c.-285C>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000467916
  gene symbol: DUS4L
  hgvsc: ENST00000467916.1:n.5C>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+289C>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000399375
  ensembl transcript: ENST00000458611
  gene symbol: DUS4L
  hgvsc: ENST00000458611.1:c.-285C>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388061
  ensembl transcript: ENST00000443233
  gene symbol: DUS4L
  hgvsc: ENST00000443233.1:c.-323C>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000412739
  ensembl transcript: ENST00000436411
  gene symbol: DUS4L
  hgvsc: ENST00000436411.1:c.-663C>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.-46G>C
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000385274
  ensembl transcript: ENST00000402620
  gene symbol: DUS4L
  hgvsc: ENST00000402620.1:c.-380C>G
  variant of: http://identifiers.org/hgnc/21517
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34487
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9663
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS

7-107204481-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204481
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204481
    reference: chr 7
allele count: 2
allele frequency: 1.647989452867502e-4
allele num: 12136
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.-47A>T
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.-47A>T
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.-47A>T
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000399375
  ensembl transcript: ENST00000458611
  gene symbol: DUS4L
  hgvsc: ENST00000458611.1:c.-284T>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000412739
  ensembl transcript: ENST00000436411
  gene symbol: DUS4L
  hgvsc: ENST00000436411.1:c.-662T>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000265720
  ensembl transcript: ENST00000265720
  gene symbol: DUS4L
  hgvsc: ENST00000265720.3:c.-284T>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000402887
  ensembl transcript: ENST00000422290
  gene symbol: DUS4L
  hgvsc: ENST00000422290.1:c.-284T>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388904
  ensembl transcript: ENST00000431839
  gene symbol: DUS4L
  hgvsc: ENST00000431839.1:c.-134T>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388061
  ensembl transcript: ENST00000443233
  gene symbol: DUS4L
  hgvsc: ENST00000443233.1:c.-322T>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000385274
  ensembl transcript: ENST00000402620
  gene symbol: DUS4L
  hgvsc: ENST00000402620.1:c.-379T>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000467916
  gene symbol: DUS4L
  hgvsc: ENST00000467916.1:n.6T>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+290T>A
  variant of: http://identifiers.org/hgnc/21517
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34532
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9653
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

7-107204484-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204484
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204484
    reference: chr 7
allele count: 1
allele frequency: 8.280887711162637e-5
allele num: 12076
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000334703
  ensembl transcript: ENST00000347053
  gene symbol: COG5
  hgvsc: ENST00000347053.3:c.-50C>A
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000412739
  ensembl transcript: ENST00000436411
  gene symbol: DUS4L
  hgvsc: ENST00000436411.1:c.-659G>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.-50C>A
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000402887
  ensembl transcript: ENST00000422290
  gene symbol: DUS4L
  hgvsc: ENST00000422290.1:c.-281G>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+293G>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.-50C>A
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000265720
  ensembl transcript: ENST00000265720
  gene symbol: DUS4L
  hgvsc: ENST00000265720.3:c.-281G>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388061
  ensembl transcript: ENST00000443233
  gene symbol: DUS4L
  hgvsc: ENST00000443233.1:c.-319G>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000385274
  ensembl transcript: ENST00000402620
  gene symbol: DUS4L
  hgvsc: ENST00000402620.1:c.-376G>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000467916
  gene symbol: DUS4L
  hgvsc: ENST00000467916.1:n.9G>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000399375
  ensembl transcript: ENST00000458611
  gene symbol: DUS4L
  hgvsc: ENST00000458611.1:c.-281G>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388904
  ensembl transcript: ENST00000431839
  gene symbol: DUS4L
  hgvsc: ENST00000431839.1:c.-131G>T
  variant of: http://identifiers.org/hgnc/21517
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34578
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9629
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/7-107204486-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107204486
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107204486
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 12068
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000265720
  ensembl transcript: ENST00000265720
  gene symbol: DUS4L
  hgvsc: ENST00000265720.3:c.-279C>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000377228
  ensembl transcript: ENST00000393603
  gene symbol: COG5
  hgvsc: ENST00000393603.2:c.-52G>T
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000412739
  ensembl transcript: ENST00000436411
  gene symbol: DUS4L
  hgvsc: ENST00000436411.1:c.-657C>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388904
  ensembl transcript: ENST00000431839
  gene symbol: DUS4L
  hgvsc: ENST00000431839.1:c.-129C>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164597
  ensembl protein: ENSP00000297135
  ensembl transcript: ENST00000297135
  gene symbol: COG5
  hgvsc: ENST00000297135.3:c.-52G>T
  variant of: http://identifiers.org/hgnc/14857
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000385274
  ensembl transcript: ENST00000402620
  gene symbol: DUS4L
  hgvsc: ENST00000402620.1:c.-374C>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388061
  ensembl transcript: ENST00000443233
  gene symbol: DUS4L
  hgvsc: ENST00000443233.1:c.-317C>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000402887
  ensembl transcript: ENST00000422290
  gene symbol: DUS4L
  hgvsc: ENST00000422290.1:c.-279C>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.263+295C>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000467916
  gene symbol: DUS4L
  hgvsc: ENST00000467916.1:n.11C>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000399375
  ensembl transcript: ENST00000458611
  gene symbol: DUS4L
  hgvsc: ENST00000458611.1:c.-279C>A
  variant of: http://identifiers.org/hgnc/21517
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9651
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34596
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

7-107207465-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107207465
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107207465
    reference: chr 7
allele count: 2
allele frequency: 2.045198895592597e-5
allele num: 97790
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388904
  ensembl transcript: ENST00000431839
  gene symbol: DUS4L
  hgvsc: ENST00000431839.1:c.-21-30T>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000412739
  ensembl transcript: ENST00000436411
  gene symbol: DUS4L
  hgvsc: ENST00000436411.1:c.-21-30T>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.353-30T>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388061
  ensembl transcript: ENST00000443233
  gene symbol: DUS4L
  hgvsc: ENST00000443233.1:c.-21-30T>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000467916
  gene symbol: DUS4L
  hgvsc: ENST00000467916.1:n.647-30T>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000265720
  ensembl transcript: ENST00000265720
  gene symbol: DUS4L
  hgvsc: ENST00000265720.3:c.-21-30T>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000402887
  ensembl transcript: ENST00000422290
  gene symbol: DUS4L
  hgvsc: ENST00000422290.1:c.-21-30T>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000385274
  ensembl transcript: ENST00000402620
  gene symbol: DUS4L
  hgvsc: ENST00000402620.1:c.-266-30T>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000399375
  ensembl transcript: ENST00000458611
  gene symbol: DUS4L
  hgvsc: ENST00000458611.1:c.-21-30T>C
  variant of: http://identifiers.org/hgnc/21517
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14987
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5721
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4302
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4419
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD

7-107207469-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107207469
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107207469
    reference: chr 7
allele count: 5
allele frequency: 5.129573014342286e-5
allele num: 97474
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388904
  ensembl transcript: ENST00000431839
  gene symbol: DUS4L
  hgvsc: ENST00000431839.1:c.-21-26C>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000412739
  ensembl transcript: ENST00000436411
  gene symbol: DUS4L
  hgvsc: ENST00000436411.1:c.-21-26C>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000399375
  ensembl transcript: ENST00000458611
  gene symbol: DUS4L
  hgvsc: ENST00000458611.1:c.-21-26C>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000265720
  ensembl transcript: ENST00000265720
  gene symbol: DUS4L
  hgvsc: ENST00000265720.3:c.-21-26C>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388061
  ensembl transcript: ENST00000443233
  gene symbol: DUS4L
  hgvsc: ENST00000443233.1:c.-21-26C>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000402887
  ensembl transcript: ENST00000422290
  gene symbol: DUS4L
  hgvsc: ENST00000422290.1:c.-21-26C>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000385274
  ensembl transcript: ENST00000402620
  gene symbol: DUS4L
  hgvsc: ENST00000402620.1:c.-266-26C>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.353-26C>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000467916
  gene symbol: DUS4L
  hgvsc: ENST00000467916.1:n.647-26C>T
  variant of: http://identifiers.org/hgnc/21517
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10257
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9497
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12525
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19104
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9226
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4288
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8014
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

7-107207472-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107207472
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107207472
    reference: chr 7
allele count: 1
allele frequency: 1.018226249872722e-5
allele num: 98210
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000399375
  ensembl transcript: ENST00000458611
  gene symbol: DUS4L
  hgvsc: ENST00000458611.1:c.-21-23T>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000412739
  ensembl transcript: ENST00000436411
  gene symbol: DUS4L
  hgvsc: ENST00000436411.1:c.-21-23T>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000385274
  ensembl transcript: ENST00000402620
  gene symbol: DUS4L
  hgvsc: ENST00000402620.1:c.-266-23T>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388904
  ensembl transcript: ENST00000431839
  gene symbol: DUS4L
  hgvsc: ENST00000431839.1:c.-21-23T>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388061
  ensembl transcript: ENST00000443233
  gene symbol: DUS4L
  hgvsc: ENST00000443233.1:c.-21-23T>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000402887
  ensembl transcript: ENST00000422290
  gene symbol: DUS4L
  hgvsc: ENST00000422290.1:c.-21-23T>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000467916
  gene symbol: DUS4L
  hgvsc: ENST00000467916.1:n.647-23T>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000265720
  ensembl transcript: ENST00000265720
  gene symbol: DUS4L
  hgvsc: ENST00000265720.3:c.-21-23T>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.353-23T>C
  variant of: http://identifiers.org/hgnc/21517
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9378
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18641
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7525
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4252
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

7-107207477-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107207477
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107207477
    reference: chr 7
allele count: 1
allele frequency: 1.011961383553604e-5
allele num: 98818
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000265720
  ensembl transcript: ENST00000265720
  gene symbol: DUS4L
  hgvsc: ENST00000265720.3:c.-21-18G>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000385274
  ensembl transcript: ENST00000402620
  gene symbol: DUS4L
  hgvsc: ENST00000402620.1:c.-266-18G>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388904
  ensembl transcript: ENST00000431839
  gene symbol: DUS4L
  hgvsc: ENST00000431839.1:c.-21-18G>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.353-18G>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388061
  ensembl transcript: ENST00000443233
  gene symbol: DUS4L
  hgvsc: ENST00000443233.1:c.-21-18G>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000467916
  gene symbol: DUS4L
  hgvsc: ENST00000467916.1:n.647-18G>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000412739
  ensembl transcript: ENST00000436411
  gene symbol: DUS4L
  hgvsc: ENST00000436411.1:c.-21-18G>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000399375
  ensembl transcript: ENST00000458611
  gene symbol: DUS4L
  hgvsc: ENST00000458611.1:c.-21-18G>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000402887
  ensembl transcript: ENST00000422290
  gene symbol: DUS4L
  hgvsc: ENST00000422290.1:c.-21-18G>A
  variant of: http://identifiers.org/hgnc/21517
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10316
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4361
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3945
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10058
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

7-107207477-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107207477
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107207477
    reference: chr 7
allele count: 2
allele frequency: 2.023922767107207e-5
allele num: 98818
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388061
  ensembl transcript: ENST00000443233
  gene symbol: DUS4L
  hgvsc: ENST00000443233.1:c.-21-18G>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000385274
  ensembl transcript: ENST00000402620
  gene symbol: DUS4L
  hgvsc: ENST00000402620.1:c.-266-18G>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000402887
  ensembl transcript: ENST00000422290
  gene symbol: DUS4L
  hgvsc: ENST00000422290.1:c.-21-18G>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000467916
  gene symbol: DUS4L
  hgvsc: ENST00000467916.1:n.647-18G>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388904
  ensembl transcript: ENST00000431839
  gene symbol: DUS4L
  hgvsc: ENST00000431839.1:c.-21-18G>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000265720
  ensembl transcript: ENST00000265720
  gene symbol: DUS4L
  hgvsc: ENST00000265720.3:c.-21-18G>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000399375
  ensembl transcript: ENST00000458611
  gene symbol: DUS4L
  hgvsc: ENST00000458611.1:c.-21-18G>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.353-18G>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000412739
  ensembl transcript: ENST00000436411
  gene symbol: DUS4L
  hgvsc: ENST00000436411.1:c.-21-18G>C
  variant of: http://identifiers.org/hgnc/21517
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4361
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21168
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10058
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6871
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

7-107207497-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107207497
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107207497
    reference: chr 7
allele count: 1
allele frequency: 9.193880553103853e-6
allele num: 108768
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000265720
  ensembl transcript: ENST00000265720
  gene symbol: DUS4L
  hgvsc: ENST00000265720.3:c.-19T>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000467916
  gene symbol: DUS4L
  hgvsc: ENST00000467916.1:n.649T>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388061
  ensembl transcript: ENST00000443233
  gene symbol: DUS4L
  hgvsc: ENST00000443233.1:c.-19T>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000385274
  ensembl transcript: ENST00000402620
  gene symbol: DUS4L
  hgvsc: ENST00000402620.1:c.-264T>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000399375
  ensembl transcript: ENST00000458611
  gene symbol: DUS4L
  hgvsc: ENST00000458611.1:c.-19T>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000402887
  ensembl transcript: ENST00000422290
  gene symbol: DUS4L
  hgvsc: ENST00000422290.1:c.-19T>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388904
  ensembl transcript: ENST00000431839
  gene symbol: DUS4L
  hgvsc: ENST00000431839.1:c.-19T>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.355T>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000412739
  ensembl transcript: ENST00000436411
  gene symbol: DUS4L
  hgvsc: ENST00000436411.1:c.-19T>C
  variant of: http://identifiers.org/hgnc/21517
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6422
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
hgvs: c.-19T>C
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

7-107207503-CAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107207503
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107207501
    reference: chr 7
allele count: 3
allele frequency: 2.66851683834125e-5
allele num: 112422
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000265720
  ensembl transcript: ENST00000265720
  gene symbol: DUS4L
  hgvsc: ENST00000265720.3:c.-10_-9delAT
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000385274
  ensembl transcript: ENST00000402620
  gene symbol: DUS4L
  hgvsc: ENST00000402620.1:c.-255_-254delAT
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388904
  ensembl transcript: ENST00000431839
  gene symbol: DUS4L
  hgvsc: ENST00000431839.1:c.-10_-9delAT
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388061
  ensembl transcript: ENST00000443233
  gene symbol: DUS4L
  hgvsc: ENST00000443233.1:c.-10_-9delAT
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000412739
  ensembl transcript: ENST00000436411
  gene symbol: DUS4L
  hgvsc: ENST00000436411.1:c.-10_-9delAT
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.364_365delAT
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000467916
  gene symbol: DUS4L
  hgvsc: ENST00000467916.1:n.658_659delAT
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000399375
  ensembl transcript: ENST00000458611
  gene symbol: DUS4L
  hgvsc: ENST00000458611.1:c.-10_-9delAT
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000402887
  ensembl transcript: ENST00000422290
  gene symbol: DUS4L
  hgvsc: ENST00000422290.1:c.-10_-9delAT
  variant of: http://identifiers.org/hgnc/21517
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4357
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7222
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40517
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: CAT
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ

http://identifiers.org/exac.variant/7-107207506-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107207506
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107207506
    reference: chr 7
allele count: 1
allele frequency: 8.784567272216171e-6
allele num: 113836
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000385274
  ensembl transcript: ENST00000402620
  gene symbol: DUS4L
  hgvsc: ENST00000402620.1:c.-255A>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000402887
  ensembl transcript: ENST00000422290
  gene symbol: DUS4L
  hgvsc: ENST00000422290.1:c.-10A>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000412739
  ensembl transcript: ENST00000436411
  gene symbol: DUS4L
  hgvsc: ENST00000436411.1:c.-10A>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000265720
  ensembl transcript: ENST00000265720
  gene symbol: DUS4L
  hgvsc: ENST00000265720.3:c.-10A>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388061
  ensembl transcript: ENST00000443233
  gene symbol: DUS4L
  hgvsc: ENST00000443233.1:c.-10A>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000399375
  ensembl transcript: ENST00000458611
  gene symbol: DUS4L
  hgvsc: ENST00000458611.1:c.-10A>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388904
  ensembl transcript: ENST00000431839
  gene symbol: DUS4L
  hgvsc: ENST00000431839.1:c.-10A>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.364A>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000467916
  gene symbol: DUS4L
  hgvsc: ENST00000467916.1:n.658A>C
  variant of: http://identifiers.org/hgnc/21517
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7468
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3695
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3327
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
reference allele: A
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

7-107207506-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107207506
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107207506
    reference: chr 7
allele count: 2
allele frequency: 1.756913454443234e-5
allele num: 113836
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.364A>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388904
  ensembl transcript: ENST00000431839
  gene symbol: DUS4L
  hgvsc: ENST00000431839.1:c.-10A>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000265720
  ensembl transcript: ENST00000265720
  gene symbol: DUS4L
  hgvsc: ENST00000265720.3:c.-10A>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000402887
  ensembl transcript: ENST00000422290
  gene symbol: DUS4L
  hgvsc: ENST00000422290.1:c.-10A>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000412739
  ensembl transcript: ENST00000436411
  gene symbol: DUS4L
  hgvsc: ENST00000436411.1:c.-10A>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388061
  ensembl transcript: ENST00000443233
  gene symbol: DUS4L
  hgvsc: ENST00000443233.1:c.-10A>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000385274
  ensembl transcript: ENST00000402620
  gene symbol: DUS4L
  hgvsc: ENST00000402620.1:c.-255A>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000467916
  gene symbol: DUS4L
  hgvsc: ENST00000467916.1:n.658A>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000399375
  ensembl transcript: ENST00000458611
  gene symbol: DUS4L
  hgvsc: ENST00000458611.1:c.-10A>G
  variant of: http://identifiers.org/hgnc/21517
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3695
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7468
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3352
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

7-107207507-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107207507
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107207507
    reference: chr 7
allele count: 1
allele frequency: 8.755187448563273e-6
allele num: 114218
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.365T>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000412739
  ensembl transcript: ENST00000436411
  gene symbol: DUS4L
  hgvsc: ENST00000436411.1:c.-9T>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388904
  ensembl transcript: ENST00000431839
  gene symbol: DUS4L
  hgvsc: ENST00000431839.1:c.-9T>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000265720
  ensembl transcript: ENST00000265720
  gene symbol: DUS4L
  hgvsc: ENST00000265720.3:c.-9T>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000402887
  ensembl transcript: ENST00000422290
  gene symbol: DUS4L
  hgvsc: ENST00000422290.1:c.-9T>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000467916
  gene symbol: DUS4L
  hgvsc: ENST00000467916.1:n.659T>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000385274
  ensembl transcript: ENST00000402620
  gene symbol: DUS4L
  hgvsc: ENST00000402620.1:c.-254T>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000399375
  ensembl transcript: ENST00000458611
  gene symbol: DUS4L
  hgvsc: ENST00000458611.1:c.-9T>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388061
  ensembl transcript: ENST00000443233
  gene symbol: DUS4L
  hgvsc: ENST00000443233.1:c.-9T>C
  variant of: http://identifiers.org/hgnc/21517
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3508
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41781
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7539
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3554
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3351
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

7-107207508-CTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107207508
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107207506
    reference: chr 7
allele count: 1
allele frequency: 8.727526618956187e-6
allele num: 114580
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388904
  ensembl transcript: ENST00000431839
  gene symbol: DUS4L
  hgvsc: ENST00000431839.1:c.-6_-5delGT
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388061
  ensembl transcript: ENST00000443233
  gene symbol: DUS4L
  hgvsc: ENST00000443233.1:c.-6_-5delGT
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000385274
  ensembl transcript: ENST00000402620
  gene symbol: DUS4L
  hgvsc: ENST00000402620.1:c.-251_-250delGT
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000402887
  ensembl transcript: ENST00000422290
  gene symbol: DUS4L
  hgvsc: ENST00000422290.1:c.-6_-5delGT
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000467916
  gene symbol: DUS4L
  hgvsc: ENST00000467916.1:n.662_663delGT
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000412739
  ensembl transcript: ENST00000436411
  gene symbol: DUS4L
  hgvsc: ENST00000436411.1:c.-6_-5delGT
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000265720
  ensembl transcript: ENST00000265720
  gene symbol: DUS4L
  hgvsc: ENST00000265720.3:c.-6_-5delGT
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.368_369delGT
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000399375
  ensembl transcript: ENST00000458611
  gene symbol: DUS4L
  hgvsc: ENST00000458611.1:c.-6_-5delGT
  variant of: http://identifiers.org/hgnc/21517
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3375
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: CTG
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD

7-107207512-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107207512
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107207512
    reference: chr 7
allele count: 2
allele frequency: 1.72226719253225e-5
allele num: 116126
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000385274
  ensembl transcript: ENST00000402620
  gene symbol: DUS4L
  hgvsc: ENST00000402620.1:c.-249A>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000399375
  ensembl transcript: ENST00000458611
  gene symbol: DUS4L
  hgvsc: ENST00000458611.1:c.-4A>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.370A>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000402887
  ensembl transcript: ENST00000422290
  gene symbol: DUS4L
  hgvsc: ENST00000422290.1:c.-4A>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388904
  ensembl transcript: ENST00000431839
  gene symbol: DUS4L
  hgvsc: ENST00000431839.1:c.-4A>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000412739
  ensembl transcript: ENST00000436411
  gene symbol: DUS4L
  hgvsc: ENST00000436411.1:c.-4A>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000265720
  ensembl transcript: ENST00000265720
  gene symbol: DUS4L
  hgvsc: ENST00000265720.3:c.-4A>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388061
  ensembl transcript: ENST00000443233
  gene symbol: DUS4L
  hgvsc: ENST00000443233.1:c.-4A>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000467916
  gene symbol: DUS4L
  hgvsc: ENST00000467916.1:n.664A>G
  variant of: http://identifiers.org/hgnc/21517
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2643
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

7-107207523-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107207523
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107207523
    reference: chr 7
allele count: 1
allele frequency: 8.428292090890703e-6
allele num: 118648
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388904
  ensembl transcript: ENST00000431839
  gene symbol: DUS4L
  hgvsc: ENST00000431839.1:c.8G>C
  hgvsp: ENSP00000388904.1:p.Ser3Thr
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000399375
  ensembl transcript: ENST00000458611
  gene symbol: DUS4L
  hgvsc: ENST00000458611.1:c.8G>C
  hgvsp: ENSP00000399375.1:p.Ser3Thr
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000385274
  ensembl transcript: ENST00000402620
  gene symbol: DUS4L
  hgvsc: ENST00000402620.1:c.-238G>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000402887
  ensembl transcript: ENST00000422290
  gene symbol: DUS4L
  hgvsc: ENST00000422290.1:c.8G>C
  hgvsp: ENSP00000402887.1:p.Ser3Thr
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000412739
  ensembl transcript: ENST00000436411
  gene symbol: DUS4L
  hgvsc: ENST00000436411.1:c.8G>C
  hgvsp: ENSP00000412739.1:p.Ser3Thr
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388061
  ensembl transcript: ENST00000443233
  gene symbol: DUS4L
  hgvsc: ENST00000443233.1:c.8G>C
  hgvsp: ENSP00000388061.1:p.Ser3Thr
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000467916
  gene symbol: DUS4L
  hgvsc: ENST00000467916.1:n.675G>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.381G>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000265720
  ensembl transcript: ENST00000265720
  gene symbol: DUS4L
  hgvsc: ENST00000265720.3:c.8G>C
  hgvsp: ENSP00000265720.3:p.Ser3Thr
  variant of: http://identifiers.org/hgnc/21517
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8762
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser3Thr
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum

7-107207538-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107207538
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107207538
    reference: chr 7
allele count: 5
allele frequency: 4.167986529067538e-5
allele num: 119962
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.396C>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000467916
  gene symbol: DUS4L
  hgvsc: ENST00000467916.1:n.690C>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000399375
  ensembl transcript: ENST00000458611
  gene symbol: DUS4L
  hgvsc: ENST00000458611.1:c.23C>T
  hgvsp: ENSP00000399375.1:p.Thr8Met
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388904
  ensembl transcript: ENST00000431839
  gene symbol: DUS4L
  hgvsc: ENST00000431839.1:c.23C>T
  hgvsp: ENSP00000388904.1:p.Thr8Met
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000412739
  ensembl transcript: ENST00000436411
  gene symbol: DUS4L
  hgvsc: ENST00000436411.1:c.23C>T
  hgvsp: ENSP00000412739.1:p.Thr8Met
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000385274
  ensembl transcript: ENST00000402620
  gene symbol: DUS4L
  hgvsc: ENST00000402620.1:c.-223C>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388061
  ensembl transcript: ENST00000443233
  gene symbol: DUS4L
  hgvsc: ENST00000443233.1:c.23C>T
  hgvsp: ENSP00000388061.1:p.Thr8Met
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000402887
  ensembl transcript: ENST00000422290
  gene symbol: DUS4L
  hgvsc: ENST00000422290.1:c.23C>T
  hgvsp: ENSP00000402887.1:p.Thr8Met
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000265720
  ensembl transcript: ENST00000265720
  gene symbol: DUS4L
  hgvsc: ENST00000265720.3:c.23C>T
  hgvsp: ENSP00000265720.3:p.Thr8Met
  variant of: http://identifiers.org/hgnc/21517
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr8Met
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

7-107207539-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107207539
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107207539
    reference: chr 7
allele count: 1
allele frequency: 8.331111703545721e-6
allele num: 120032
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000265720
  ensembl transcript: ENST00000265720
  gene symbol: DUS4L
  hgvsc: ENST00000265720.3:c.24G>A
  hgvsp: ENST00000265720.3:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000412739
  ensembl transcript: ENST00000436411
  gene symbol: DUS4L
  hgvsc: ENST00000436411.1:c.24G>A
  hgvsp: ENST00000436411.1:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000399375
  ensembl transcript: ENST00000458611
  gene symbol: DUS4L
  hgvsc: ENST00000458611.1:c.24G>A
  hgvsp: ENST00000458611.1:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388061
  ensembl transcript: ENST00000443233
  gene symbol: DUS4L
  hgvsc: ENST00000443233.1:c.24G>A
  hgvsp: ENST00000443233.1:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000402887
  ensembl transcript: ENST00000422290
  gene symbol: DUS4L
  hgvsc: ENST00000422290.1:c.24G>A
  hgvsp: ENST00000422290.1:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.397G>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388904
  ensembl transcript: ENST00000431839
  gene symbol: DUS4L
  hgvsc: ENST00000431839.1:c.24G>A
  hgvsp: ENST00000431839.1:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000385274
  ensembl transcript: ENST00000402620
  gene symbol: DUS4L
  hgvsc: ENST00000402620.1:c.-222G>A
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000467916
  gene symbol: DUS4L
  hgvsc: ENST00000467916.1:n.691G>A
  variant of: http://identifiers.org/hgnc/21517
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3829
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48999
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr8Thr
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

7-107207541-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107207541
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107207541
    reference: chr 7
allele count: 3
allele frequency: 2.49708673214583e-5
allele num: 120140
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000412739
  ensembl transcript: ENST00000436411
  gene symbol: DUS4L
  hgvsc: ENST00000436411.1:c.26C>T
  hgvsp: ENSP00000412739.1:p.Thr9Ile
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388904
  ensembl transcript: ENST00000431839
  gene symbol: DUS4L
  hgvsc: ENST00000431839.1:c.26C>T
  hgvsp: ENSP00000388904.1:p.Thr9Ile
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000399375
  ensembl transcript: ENST00000458611
  gene symbol: DUS4L
  hgvsc: ENST00000458611.1:c.26C>T
  hgvsp: ENSP00000399375.1:p.Thr9Ile
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000385274
  ensembl transcript: ENST00000402620
  gene symbol: DUS4L
  hgvsc: ENST00000402620.1:c.-220C>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000467916
  gene symbol: DUS4L
  hgvsc: ENST00000467916.1:n.693C>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.399C>T
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388061
  ensembl transcript: ENST00000443233
  gene symbol: DUS4L
  hgvsc: ENST00000443233.1:c.26C>T
  hgvsp: ENSP00000388061.1:p.Thr9Ile
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000402887
  ensembl transcript: ENST00000422290
  gene symbol: DUS4L
  hgvsc: ENST00000422290.1:c.26C>T
  hgvsp: ENSP00000402887.1:p.Thr9Ile
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000265720
  ensembl transcript: ENST00000265720
  gene symbol: DUS4L
  hgvsc: ENST00000265720.3:c.26C>T
  hgvsp: ENSP00000265720.3:p.Thr9Ile
  variant of: http://identifiers.org/hgnc/21517
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9788
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3352
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Thr9Ile
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/7-107207550-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107207550
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107207550
    reference: chr 7
allele count: 1
allele frequency: 8.300821781356355e-6
allele num: 120470
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.408A>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000385274
  ensembl transcript: ENST00000402620
  gene symbol: DUS4L
  hgvsc: ENST00000402620.1:c.-211A>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388904
  ensembl transcript: ENST00000431839
  gene symbol: DUS4L
  hgvsc: ENST00000431839.1:c.35A>C
  hgvsp: ENSP00000388904.1:p.Gln12Pro
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000399375
  ensembl transcript: ENST00000458611
  gene symbol: DUS4L
  hgvsc: ENST00000458611.1:c.35A>C
  hgvsp: ENSP00000399375.1:p.Gln12Pro
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000467916
  gene symbol: DUS4L
  hgvsc: ENST00000467916.1:n.702A>C
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000412739
  ensembl transcript: ENST00000436411
  gene symbol: DUS4L
  hgvsc: ENST00000436411.1:c.35A>C
  hgvsp: ENSP00000412739.1:p.Gln12Pro
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388061
  ensembl transcript: ENST00000443233
  gene symbol: DUS4L
  hgvsc: ENST00000443233.1:c.35A>C
  hgvsp: ENSP00000388061.1:p.Gln12Pro
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000402887
  ensembl transcript: ENST00000422290
  gene symbol: DUS4L
  hgvsc: ENST00000422290.1:c.35A>C
  hgvsp: ENSP00000402887.1:p.Gln12Pro
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000265720
  ensembl transcript: ENST00000265720
  gene symbol: DUS4L
  hgvsc: ENST00000265720.3:c.35A>C
  hgvsp: ENSP00000265720.3:p.Gln12Pro
  variant of: http://identifiers.org/hgnc/21517
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln12Pro
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

7-107207555-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107207555
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 107207555
    reference: chr 7
allele count: 1
allele frequency: 8.289949265510494e-6
allele num: 120628
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000498786
  gene symbol: DUS4L
  hgvsc: ENST00000498786.1:n.413A>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388061
  ensembl transcript: ENST00000443233
  gene symbol: DUS4L
  hgvsc: ENST00000443233.1:c.40A>G
  hgvsp: ENSP00000388061.1:p.Arg14Gly
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000385274
  ensembl transcript: ENST00000402620
  gene symbol: DUS4L
  hgvsc: ENST00000402620.1:c.-206A>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105865
  ensembl transcript: ENST00000467916
  gene symbol: DUS4L
  hgvsc: ENST00000467916.1:n.707A>G
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000388904
  ensembl transcript: ENST00000431839
  gene symbol: DUS4L
  hgvsc: ENST00000431839.1:c.40A>G
  hgvsp: ENSP00000388904.1:p.Arg14Gly
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000265720
  ensembl transcript: ENST00000265720
  gene symbol: DUS4L
  hgvsc: ENST00000265720.3:c.40A>G
  hgvsp: ENSP00000265720.3:p.Arg14Gly
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000402887
  ensembl transcript: ENST00000422290
  gene symbol: DUS4L
  hgvsc: ENST00000422290.1:c.40A>G
  hgvsp: ENSP00000402887.1:p.Arg14Gly
  variant of: http://identifiers.org/hgnc/21517
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105865
  ensembl protein: ENSP00000412739
  ensembl transcript: ENST00000436411
  gene symbol: DUS4L
  hgvsc: ENST00000436411.1:c.40A>G
  hgvsp: ENSP00000412739.1:p.Arg14Gly
  variant of: http://identifiers.org/hgnc/21517
canonical: true
consequence: missense
filter: PASS
hgvs: p.Arg14Gly
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 803
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1322
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9302
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16334
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.170376006594382e-5
allele num: 63084
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

QD
type: SiteQuality
SIO_000300: 1.307e1

DP
type: SiteQuality
SIO_000300: 1.697895e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.72e0

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 281
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 803
bin: 7.5e0
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11324
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.585188003297191e-5
allele num: 63084
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16334
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9302
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.697895e6

FS
type: SiteQuality
SIO_000300: 8.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

VQSLOD
type: SiteQuality
SIO_000300: 6.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 1.307e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.72e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.586344744439862e-5
allele num: 63038
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6428
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9278
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16332
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.51e-1

FS
type: SiteQuality
SIO_000300: 2.053e0

DP
type: SiteQuality
SIO_000300: 1.697317e6

VQSLOD
type: SiteQuality
SIO_000300: 3.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.414e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

GenotypeQuality
all individuals: 103
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3895
bin: 9.75e1
variant carriers: 52

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63038
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16332
num of homozygotes: 0

East Asian
type: Population
allele count: 52
allele frequency: 6.161137440758294e-3
allele num: 8440
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6428
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9278
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

FS
type: SiteQuality
SIO_000300: 2.053e0

QD
type: SiteQuality
SIO_000300: 1.414e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.6e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.68e-1

DP
type: SiteQuality
SIO_000300: 1.697317e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16306
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9226
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.591444394932841e-5
allele num: 62836
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11268
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6424
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -3.4e-1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.144e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.06e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.690045e6

VQSLOD
type: SiteQuality
SIO_000300: -1.624e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.272e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 94
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62730
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9210
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16286
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6396
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.192463629859289e-4
allele num: 8386
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11260
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.111e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.66e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

DP
type: SiteQuality
SIO_000300: 1.687427e6

QD
type: SiteQuality
SIO_000300: 1.258e1

VQSLOD
type: SiteQuality
SIO_000300: 3.8e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16276
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9210
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8370
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.786368422732059e-5
allele num: 62678
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 5.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

QD
type: SiteQuality
SIO_000300: 1.327e1

FS
type: SiteQuality
SIO_000300: 7.249e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.932e0

DP
type: SiteQuality
SIO_000300: 1.685919e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.02e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1240
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.148548942449582e-5
allele num: 16264
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11238
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9196
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6380
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8368
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

DP
type: SiteQuality
SIO_000300: 1.683815e6

QD
type: SiteQuality
SIO_000300: 1.835e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.004e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.03e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.23e0

MQRankSum
type: SiteQuality
SIO_000300: 1.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.72e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 164
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GenotypeQuality
all individuals: 1293
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62204
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.201923076923077e-4
allele num: 8320
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11192
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6346
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.662e0

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

DP
type: SiteQuality
SIO_000300: 1.672816e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQ
type: SiteQuality
SIO_000300: 5.983e1

QD
type: SiteQuality
SIO_000300: 1.666e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 339
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8320
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.607613658285641e-5
allele num: 62204
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16214
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11192
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6346
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

FS
type: SiteQuality
SIO_000300: 1.662e0

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.86e-1

QD
type: SiteQuality
SIO_000300: 1.666e1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.672816e6

MQ
type: SiteQuality
SIO_000300: 5.983e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

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: 16164
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 828
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.618175345480436e-5
allele num: 61798
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6296
num of homozygotes: 0

Latino
type: Population
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allele frequency: 1.799532121648371e-4
allele num: 11114
num of homozygotes: 0

East Asian
type: Population
allele count: 0
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allele num: 8252
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.67e-1

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.3018e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

QD
type: SiteQuality
SIO_000300: 1.383e1

DP
type: SiteQuality
SIO_000300: 1.6598e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9066
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6296
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61802
num of homozygotes: 0

East Asian
type: Population
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allele frequency: 4.847309743092584e-4
allele num: 8252
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11112
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.2e-2

QD
type: SiteQuality
SIO_000300: 1.496e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

DP
type: SiteQuality
SIO_000300: 1.659468e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-2

FS
type: SiteQuality
SIO_000300: 3.926e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.45e0

VQSLOD
type: SiteQuality
SIO_000300: 5.82e-1

GenotypeQuality
all individuals: 757
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3812
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61670
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11102
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.237623762376238e-4
allele num: 16160
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8248
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

FS
type: SiteQuality
SIO_000300: 1.822e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.0e-2

QD
type: SiteQuality
SIO_000300: 1.233e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.655646e6

GenotypeQuality
all individuals: 1168
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
all individuals: 6248
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8178
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16030
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8918
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.637411579774692e-5
allele num: 61072
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6208
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10990
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.12e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.633753e6

MQRankSum
type: SiteQuality
SIO_000300: 5.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.375e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

QD
type: SiteQuality
SIO_000300: 1.422e1

VQSLOD
type: SiteQuality
SIO_000300: 6.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e0

GenotypeQuality
all individuals: 462
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1140
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16030
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.121327651939897e-4
allele num: 8918
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6208
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61072
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10990
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8178
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.18e-1

QD
type: SiteQuality
SIO_000300: 1.422e1

FS
type: SiteQuality
SIO_000300: 6.12e0

DP
type: SiteQuality
SIO_000300: 1.633753e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.375e0

GenotypeQuality
all individuals: 38
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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
all individuals: 160
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GenotypeQuality
all individuals: 3796
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6178
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.642090052218464e-5
allele num: 60898
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8148
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10966
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15976
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.8e-2

FS
type: SiteQuality
SIO_000300: 4.028e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.34e-1

DP
type: SiteQuality
SIO_000300: 1.628074e6

QD
type: SiteQuality
SIO_000300: 1.709e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

GenotypeQuality
all individuals: 403
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 544
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 274
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variant carriers: 0

GenotypeQuality
all individuals: 1097
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.652400938563733e-5
allele num: 60518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8096
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8818
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6134
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15882
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

QD
type: SiteQuality
SIO_000300: 1.452e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

FS
type: SiteQuality
SIO_000300: 1.904e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.0e-1

DP
type: SiteQuality
SIO_000300: 1.612994e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.729e0

GenotypeQuality
all individuals: 3796
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 403
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variant carriers: 0

GenotypeQuality
all individuals: 1118
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6051
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variant carriers: 0

GenotypeQuality
all individuals: 266
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variant carriers: 0

GenotypeQuality
all individuals: 1095
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8088
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6130
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.653548515113433e-5
allele num: 60476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15880
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8798
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.45e-1

QD
type: SiteQuality
SIO_000300: 1.585e1

DP
type: SiteQuality
SIO_000300: 1.612257e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e0

MQRankSum
type: SiteQuality
SIO_000300: -6.860000000000001e-1

GenotypeQuality
all individuals: 417
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variant carriers: 0

GenotypeQuality
all individuals: 57
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GenotypeQuality
all individuals: 461
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GenotypeQuality
all individuals: 900
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variant carriers: 0

GenotypeQuality
all individuals: 232
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GenotypeQuality
all individuals: 5457
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.39097999321804e-5
allele num: 58980
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7822
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15584
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.557326e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.135e0

FS
type: SiteQuality
SIO_000300: 1.6631e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.74e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.649999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.438e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8358
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15318
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5698
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.316829075585989e-4
allele num: 7594
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.372e1

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.4e0

FS
type: SiteQuality
SIO_000300: 1.793e0

DP
type: SiteQuality
SIO_000300: 1.504735e6

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

GenotypeQuality
all individuals: 1258
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variant carriers: 0

GenotypeQuality
all individuals: 387
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GenotypeQuality
all individuals: 26916
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GenotypeQuality
all individuals: 320
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variant carriers: 0

GenotypeQuality
all individuals: 219
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7102
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7986
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54848
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9560
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.749460043196545e-5
allele num: 14816
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 742
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5358
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.44e-1

DP
type: SiteQuality
SIO_000300: 1.40335e6

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

QD
type: SiteQuality
SIO_000300: 1.153e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.381e0

GenotypeQuality
all individuals: 280
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variant carriers: 0

GenotypeQuality
all individuals: 297
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GenotypeQuality
all individuals: 1318
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GenotypeQuality
all individuals: 700
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GenotypeQuality
all individuals: 659
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GenotypeQuality
all individuals: 238
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5254
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7868
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6948
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 3.207184092366902e-4
allele num: 9354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53870
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14648
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

MQRankSum
type: SiteQuality
SIO_000300: -4.6e-1

FS
type: SiteQuality
SIO_000300: 5.16e0

QD
type: SiteQuality
SIO_000300: 1.165e1

DP
type: SiteQuality
SIO_000300: 1.363355e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.35e-1

GenotypeQuality
all individuals: 1494
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variant carriers: 7

GenotypeQuality
all individuals: 117
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GenotypeQuality
all individuals: 382
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GenotypeQuality
all individuals: 540
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GenotypeQuality
all individuals: 3123
bin: 6.75e1
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GenotypeQuality
all individuals: 345
bin: 9.25e1
variant carriers: 10

Other
type: Population
allele count: 5
allele frequency: 7.142857142857143e-3
allele num: 700
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 34
allele frequency: 6.548031738695016e-4
allele num: 51924
num of homozygotes: 1

South Asian
type: Population
allele count: 3
allele frequency: 2.087392151405511e-4
allele num: 14372
num of homozygotes: 0

African
type: Population
allele count: 794
allele frequency: 1.041174927878311e-1
allele num: 7626
num of homozygotes: 35

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5010
num of homozygotes: 0

Latino
type: Population
allele count: 56
allele frequency: 6.331976481230212e-3
allele num: 8844
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.18e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.74e0

MQRankSum
type: SiteQuality
SIO_000300: 1.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.67e0

DP
type: SiteQuality
SIO_000300: 1.29257e6

QD
type: SiteQuality
SIO_000300: 1.385e1

GenotypeQuality
all individuals: 359
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3040
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 8
allele frequency: 1.236093943139679e-3
allele num: 6472
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7166
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50920
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4892
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14226
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.624e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.17e-1

FS
type: SiteQuality
SIO_000300: 1.0817e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.72e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.563e-1

DP
type: SiteQuality
SIO_000300: 1.247437e6

GenotypeQuality
all individuals: 2290
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3692
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 430
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 8.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48282
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6762
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7974
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6144
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.23589001447178e-5
allele num: 13820
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4590
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.155037e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.92e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.78e-1

FS
type: SiteQuality
SIO_000300: 6.575e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.082e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.340000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.67e-1

GenotypeQuality
all individuals: 16593
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 911
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2277
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 1.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7974
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.071079446607572e-5
allele num: 48284
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13818
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6144
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 644
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 4.357298474945534e-4
allele num: 4590
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.63e-1

FS
type: SiteQuality
SIO_000300: 3.36e0

DP
type: SiteQuality
SIO_000300: 1.15319e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.93e-1

QD
type: SiteQuality
SIO_000300: 1.067e1

MQRankSum
type: SiteQuality
SIO_000300: -1.058e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.37e0

GenotypeQuality
all individuals: 7638
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3590
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39354
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.595914458984998e-4
allele num: 6266
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12542
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5046
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.919e1

VQSLOD
type: SiteQuality
SIO_000300: -3.958e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.407e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

DP
type: SiteQuality
SIO_000300: 9.42438e5

QD
type: SiteQuality
SIO_000300: 1.476e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.154e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.29e-2

GenotypeQuality
all individuals: 1117
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37998
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3462
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.615508885298869e-4
allele num: 12380
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5334
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4886
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.203e1

FS
type: SiteQuality
SIO_000300: 4.421e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.45e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.53e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.257e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

DP
type: SiteQuality
SIO_000300: 9.21112e5

GenotypeQuality
all individuals: 2559
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4850
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3160
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5636
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11986
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 8.439768187700444e-5
allele num: 35546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4918
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.74e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.4e-1

FS
type: SiteQuality
SIO_000300: 3.476e0

QD
type: SiteQuality
SIO_000300: 1.172e1

VQSLOD
type: SiteQuality
SIO_000300: 9.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

DP
type: SiteQuality
SIO_000300: 8.72535e5

GenotypeQuality
all individuals: 319
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 101
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4310
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.132243312660528e-5
allele num: 31926
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4060
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4972
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 1.45032632342277e-3
allele num: 2758
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.88e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.6e-2

FS
type: SiteQuality
SIO_000300: 5.812e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

DP
type: SiteQuality
SIO_000300: 8.24281e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.592e-1

QD
type: SiteQuality
SIO_000300: 8.5e0

GenotypeQuality
all individuals: 2266
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 319
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 7.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4972
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4310
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2758
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4060
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.264486625321055e-5
allele num: 31926
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.6e-2

DP
type: SiteQuality
SIO_000300: 8.24281e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.88e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

QD
type: SiteQuality
SIO_000300: 8.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.592e-1

FS
type: SiteQuality
SIO_000300: 5.812e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

GenotypeQuality
all individuals: 125
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1170
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1817
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32393
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3686
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28542
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.120758847136082e-5
allele num: 10964
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2286
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4378
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 416
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3770
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3646
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.508e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

DP
type: SiteQuality
SIO_000300: 7.78455e5

VQSLOD
type: SiteQuality
SIO_000300: 9.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

QD
type: SiteQuality
SIO_000300: 9.06e0

GenotypeQuality
all individuals: 981
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1301
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3685
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1644
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28019
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1312
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2904
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.717472118959108e-4
allele num: 2690
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2774
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.625774817281895e-5
allele num: 21618
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9806
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.37e-2

FS
type: SiteQuality
SIO_000300: 3.825e0

DP
type: SiteQuality
SIO_000300: 7.0333e5

QD
type: SiteQuality
SIO_000300: 1.374e1

VQSLOD
type: SiteQuality
SIO_000300: 2.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e0

GenotypeQuality
all individuals: 159
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1485
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1353
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1265
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.636068613815485e-5
allele num: 21570
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2876
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2694
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1306
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

FS
type: SiteQuality
SIO_000300: 3.424e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

QD
type: SiteQuality
SIO_000300: 7.4e0

VQSLOD
type: SiteQuality
SIO_000300: -1.374e0

DP
type: SiteQuality
SIO_000300: 7.00312e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.35e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

MQ
type: SiteQuality
SIO_000300: 5.787e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

GenotypeQuality
all individuals: 3143
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1089
bin: 6.25e1
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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bin: 3.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9298
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18960
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 278
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1024
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.258943781942078e-4
allele num: 2348
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2314
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2414
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

QD
type: SiteQuality
SIO_000300: 5.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.153e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.68e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

DP
type: SiteQuality
SIO_000300: 6.71025e5

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2240
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 4.436557231588288e-4
allele num: 2254
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2180
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 924
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17884
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9126
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.85e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.05e0

DP
type: SiteQuality
SIO_000300: 6.58782e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.07605736068252e-5
allele num: 11018
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 438
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 4.910385465259023e-4
allele num: 8146
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1206
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.363295880149813e-4
allele num: 1068
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1314
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 5.319148936170213e-3
allele num: 188
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.63e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.62e-1

FS
type: SiteQuality
SIO_000300: 3.295e0

VQSLOD
type: SiteQuality
SIO_000300: -1.099e0

QD
type: SiteQuality
SIO_000300: 1.465e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.29e-2

DP
type: SiteQuality
SIO_000300: 5.74479e5

MQRankSum
type: SiteQuality
SIO_000300: -1.89e-1

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

GenotypeQuality
all individuals: 147
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.324878776575905e-5
allele num: 10724
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1154
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8110
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 998
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1284
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.29e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.65e-1

FS
type: SiteQuality
SIO_000300: 1.659e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.115e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.06e-1

DP
type: SiteQuality
SIO_000300: 5.70346e5

GenotypeQuality
all individuals: 1264
bin: 2.5e0
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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GenotypeQuality
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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: 321
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GenotypeQuality
all individuals: 259
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1154
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.233045622688039e-4
allele num: 8110
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10724
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 998
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1284
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.659e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.115e-1

QD
type: SiteQuality
SIO_000300: 4.39e0

MQRankSum
type: SiteQuality
SIO_000300: -2.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.06e-1

DP
type: SiteQuality
SIO_000300: 5.70346e5

VQSLOD
type: SiteQuality
SIO_000300: 8.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 279
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GenotypeQuality
all individuals: 18
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variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 5.952380952380952e-3
allele num: 168
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.642987249544627e-3
allele num: 1098
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 960
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8010
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 296
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.259445843828715e-3
allele num: 794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9384
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.83e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.426e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.538e0

DP
type: SiteQuality
SIO_000300: 5.47919e5

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.411e1

GenotypeQuality
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variant carriers: 13

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 304
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

African
type: Population
allele count: 108
allele frequency: 9.72972972972973e-2
allele num: 1110
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 7.480230818550972e-4
allele num: 9358
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 3.787878787878788e-3
allele num: 792
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 942
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South Asian
type: Population
allele count: 1
allele frequency: 1.249063202598052e-4
allele num: 8006
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.35e-2

QD
type: SiteQuality
SIO_000300: 1.327e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

DP
type: SiteQuality
SIO_000300: 5.4764e5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 67
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 168
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East Asian
type: Population
allele count: 0
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South Asian
type: Population
allele count: 7
allele frequency: 8.785140562248996e-4
allele num: 7968
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 286
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9040
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.03e-2

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.5383e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.40581e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.49e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 274
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 2
allele frequency: 3.257328990228013e-3
allele num: 614
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.176470588235294e-3
allele num: 850
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 3.692762186115214e-4
allele num: 8124
num of homozygotes: 0

East Asian
type: Population
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allele num: 762
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MQRankSum
type: SiteQuality
SIO_000300: -4.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.320000000000001e-2

DP
type: SiteQuality
SIO_000300: 5.26304e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 1.34e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.52e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7814
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7774
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 568
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.89e0

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

DP
type: SiteQuality
SIO_000300: 5.21084e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.39e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.495e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7772
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7210
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 160
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.54e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

MQ
type: SiteQuality
SIO_000300: 5.303e1

DP
type: SiteQuality
SIO_000300: 5.11567e5

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.9e0

QD
type: SiteQuality
SIO_000300: 5.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 676
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 426
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6678
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7730
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.83e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.00647e5

QD
type: SiteQuality
SIO_000300: 1.495e1

VQSLOD
type: SiteQuality
SIO_000300: -1.283e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 144
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 278
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 388
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5370
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 518
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 82
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7610
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.57e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

DP
type: SiteQuality
SIO_000300: 4.70596e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 74
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 490
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 368
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 260
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.928268414963363e-4
allele num: 5186
num of homozygotes: 0

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.66e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 4.66083e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.530000000000001e-2

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 2.241147467503362e-4
allele num: 4462
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

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

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

Other
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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FS
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QD
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.241147467503362e-4
allele num: 4462
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 200
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African
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South Asian
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num of homozygotes: 0

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

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 1.19e0

DP
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SIO_000300: 4.50354e5

GenotypeDepth
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3742
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 4.33605e5

QD
type: SiteQuality
SIO_000300: 8.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.81e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeDepth
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bin: 8.75e1
variant carriers: 0

GenotypeDepth
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 2

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3750
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 342
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.669514148424986e-4
allele num: 7492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 140
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.049e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: -8.76e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQRankSum
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SIO_000300: -2.14e-1

FS
type: SiteQuality
SIO_000300: 7.595e0

DP
type: SiteQuality
SIO_000300: 4.33637e5

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.016e-1

GenotypeDepth
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bin: 8.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3708
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7484
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 344
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 4.098360655737705e-3
allele num: 244
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.92e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.85e-1

FS
type: SiteQuality
SIO_000300: 1.399e0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 4.33747e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.394e1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 124
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variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3694
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7484
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.98e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.583e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.98e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

DP
type: SiteQuality
SIO_000300: 4.34318e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

QD
type: SiteQuality
SIO_000300: 1.276e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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: 13306
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9628
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.34246896228625e-4
allele num: 8538
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52658
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.053864e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.51e0

VQSLOD
type: SiteQuality
SIO_000300: 2.39e0

MQRankSum
type: SiteQuality
SIO_000300: -1.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.81e-1

QD
type: SiteQuality
SIO_000300: 1.439e1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6156
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9616
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13252
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 52468
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.69593801361822e-4
allele num: 8518
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.497005988023952e-4
allele num: 6680
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.44e0

MQRankSum
type: SiteQuality
SIO_000300: 2.75e-1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.067614e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.11e0

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6178
num of homozygotes: 0

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

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

Latino
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East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 1.166588894073728e-4
allele num: 8572
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South Asian
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.91e0

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.943e1

VQSLOD
type: SiteQuality
SIO_000300: 4.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.18e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e0

QD
type: SiteQuality
SIO_000300: 1.323e1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
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Other
type: Population
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.879769916162262e-5
allele num: 53198
num of homozygotes: 0

Latino
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num of homozygotes: 0

East Asian
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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FS
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

QD
type: SiteQuality
SIO_000300: 1.263e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele num: 792
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.483459427384661e-4
allele num: 13482
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53198
num of homozygotes: 0

Latino
type: Population
allele count: 0
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num of homozygotes: 0

East Asian
type: Population
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allele frequency: 0.0e0
allele num: 6786
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6200
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.13e-1

DP
type: SiteQuality
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QD
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MQ
type: SiteQuality
SIO_000300: 5.93e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.003e0

MQRankSum
type: SiteQuality
SIO_000300: -4.16e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10688
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14704
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9378
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 59034
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7694
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.555693839452396e-4
allele num: 6428
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.43e0

DP
type: SiteQuality
SIO_000300: 1.368292e6

MQRankSum
type: SiteQuality
SIO_000300: -1.206e0

ClippingRankSum
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MQ
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FS
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SIO_000300: 7.835e0

BaseQRankSum
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SIO_000300: 6.33e0

InbreedingCoeff
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SIO_000300: 4.2e-3

QD
type: SiteQuality
SIO_000300: 1.835e1

VQSLOD
type: SiteQuality
SIO_000300: -3.47e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8018
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.265412748171369e-5
allele num: 61248
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10966
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.589351607801793e-5
allele num: 15176
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.09e0

DP
type: SiteQuality
SIO_000300: 1.417355e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.831e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11066
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62104
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15386
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.231527093596059e-4
allele num: 8120
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.433229e6

FS
type: SiteQuality
SIO_000300: 1.0655e1

VQSLOD
type: SiteQuality
SIO_000300: -6.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

QD
type: SiteQuality
SIO_000300: 1.396e1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8120
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.61020224140152e-5
allele num: 62104
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.036688957166094e-5
allele num: 11066
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15386
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.433229e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.85e-1

FS
type: SiteQuality
SIO_000300: 1.0655e1

QD
type: SiteQuality
SIO_000300: 1.396e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-2

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.604055051169356e-5
allele num: 62342
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6512
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Other
type: Population
allele count: 0
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num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.437506e6

BaseQRankSum
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.870000000000001e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9830
num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

East Asian
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allele frequency: 1.218620521569583e-4
allele num: 8206
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
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MQRankSum
type: SiteQuality
SIO_000300: -1.21e-1

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.56e-1

InbreedingCoeff
type: SiteQuality
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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South Asian
type: Population
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allele frequency: 1.273398701133325e-4
allele num: 15706
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African
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.537420822827624e-5
allele num: 65044
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ReadPosRankSum
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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DP
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.09e-1

GenotypeQuality
all individuals: 82
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3806
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 853
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3354
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 547
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 48918
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16312
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.594629078315815e-5
allele num: 65836
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

FS
type: SiteQuality
SIO_000300: 1.465e0

MQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.67e-1

DP
type: SiteQuality
SIO_000300: 1.508455e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

VQSLOD
type: SiteQuality
SIO_000300: 7.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.934e0

QD
type: SiteQuality
SIO_000300: 1.166e1

GenotypeQuality
all individuals: 106
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 850
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3349
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 128
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 2.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.716284492809949e-5
allele num: 10292
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65864
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.971e1

DP
type: SiteQuality
SIO_000300: 1.509981e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

QD
type: SiteQuality
SIO_000300: 2.887e1

VQSLOD
type: SiteQuality
SIO_000300: -2.313e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.899999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-2

FS
type: SiteQuality
SIO_000300: 1.898e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

GenotypeQuality
all individuals: 220
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 803
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49104
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3832
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 119
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.55055668476777e-5
allele num: 65926
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16344
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.87e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.56e-1

QD
type: SiteQuality
SIO_000300: 1.038e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.97e0

DP
type: SiteQuality
SIO_000300: 1.511193e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.5e-2

GenotypeQuality
all individuals: 89
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 801
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3351
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 551
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variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 106
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3864
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49496
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 2.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512081531436175e-5
allele num: 66134
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16388
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -3.03e-1

DP
type: SiteQuality
SIO_000300: 1.516414e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e0

VQSLOD
type: SiteQuality
SIO_000300: -1.589e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.43e0

FS
type: SiteQuality
SIO_000300: 1.242e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.852e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.532e0