http://identifiers.org/exac.variant/8-62596798-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62596798
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62596798
    reference: chr 8
allele count: 1
allele frequency: 9.040283503290662e-6
allele num: 110616
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl transcript: ENST00000522036
  gene symbol: ASPH
  hgvsc: ENST00000522036.1:n.28-51G>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429160
  ensembl transcript: ENST00000522835
  gene symbol: ASPH
  hgvsc: ENST00000522835.1:c.17-51G>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000348841
  ensembl transcript: ENST00000356457
  gene symbol: ASPH
  hgvsc: ENST00000356457.5:c.104-51G>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368762
  ensembl transcript: ENST00000379449
  gene symbol: ASPH
  hgvsc: ENST00000379449.6:c.104-51G>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427823
  ensembl transcript: ENST00000519234
  gene symbol: ASPH
  hgvsc: ENST00000519234.1:c.104-51G>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000394013
  ensembl transcript: ENST00000445642
  gene symbol: ASPH
  hgvsc: ENST00000445642.3:c.17-51G>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429718
  ensembl transcript: ENST00000522349
  gene symbol: ASPH
  hgvsc: ENST00000522349.1:c.17-51G>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000373856
  ensembl transcript: ENST00000389204
  gene symbol: ASPH
  hgvsc: ENST00000389204.4:c.17-51G>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429954
  ensembl transcript: ENST00000517847
  gene symbol: ASPH
  hgvsc: ENST00000517847.2:c.17-51G>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000436188
  ensembl transcript: ENST00000522603
  gene symbol: ASPH
  hgvsc: ENST00000522603.1:c.17-51G>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427877
  ensembl transcript: ENST00000518306
  gene symbol: ASPH
  hgvsc: ENST00000518306.1:c.17-51G>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368767
  ensembl transcript: ENST00000379454
  gene symbol: ASPH
  hgvsc: ENST00000379454.4:c.104-51G>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429743
  ensembl transcript: ENST00000517856
  gene symbol: ASPH
  hgvsc: ENST00000517856.1:c.104-51G>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000430245
  ensembl transcript: ENST00000517903
  gene symbol: ASPH
  hgvsc: ENST00000517903.1:c.17-51G>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429286
  ensembl transcript: ENST00000518068
  gene symbol: ASPH
  hgvsc: ENST00000518068.1:c.104-51G>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000428060
  ensembl transcript: ENST00000517661
  gene symbol: ASPH
  hgvsc: ENST00000517661.1:c.17-51G>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl transcript: ENST00000517928
  gene symbol: ASPH
  hgvsc: ENST00000517928.1:n.217-51G>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000437864
  ensembl transcript: ENST00000541428
  gene symbol: ASPH
  hgvsc: ENST00000541428.1:c.17-51G>T
  variant of: http://identifiers.org/hgnc/757
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3508
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13978
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9883
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

8-62602184-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62602184
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62602184
    reference: chr 8
allele count: 22
allele frequency: 3.057763940623784e-4
allele num: 71948
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429954
  ensembl transcript: ENST00000517847
  gene symbol: ASPH
  hgvsc: ENST00000517847.2:c.16+48A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000348841
  ensembl transcript: ENST00000356457
  gene symbol: ASPH
  hgvsc: ENST00000356457.5:c.104-5437A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000428060
  ensembl transcript: ENST00000517661
  gene symbol: ASPH
  hgvsc: ENST00000517661.1:c.16+48A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000394013
  ensembl transcript: ENST00000445642
  gene symbol: ASPH
  hgvsc: ENST00000445642.3:c.16+48A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368767
  ensembl transcript: ENST00000379454
  gene symbol: ASPH
  hgvsc: ENST00000379454.4:c.104-5437A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427823
  ensembl transcript: ENST00000519234
  gene symbol: ASPH
  hgvsc: ENST00000519234.1:c.104-5437A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000436188
  ensembl transcript: ENST00000522603
  gene symbol: ASPH
  hgvsc: ENST00000522603.1:c.16+48A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429286
  ensembl transcript: ENST00000518068
  gene symbol: ASPH
  hgvsc: ENST00000518068.1:c.104-5437A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000373856
  ensembl transcript: ENST00000389204
  gene symbol: ASPH
  hgvsc: ENST00000389204.4:c.16+48A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368762
  ensembl transcript: ENST00000379449
  gene symbol: ASPH
  hgvsc: ENST00000379449.6:c.104-5437A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429743
  ensembl transcript: ENST00000517856
  gene symbol: ASPH
  hgvsc: ENST00000517856.1:c.104-5437A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000437864
  ensembl transcript: ENST00000541428
  gene symbol: ASPH
  hgvsc: ENST00000541428.1:c.16+48A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl transcript: ENST00000522036
  gene symbol: ASPH
  hgvsc: ENST00000522036.1:n.27+48A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000430245
  ensembl transcript: ENST00000517903
  gene symbol: ASPH
  hgvsc: ENST00000517903.1:c.16+48A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427877
  ensembl transcript: ENST00000518306
  gene symbol: ASPH
  hgvsc: ENST00000518306.1:c.16+48A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl transcript: ENST00000522343
  gene symbol: ASPH
  hgvsc: ENST00000522343.1:n.43+48A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429160
  ensembl transcript: ENST00000522835
  gene symbol: ASPH
  hgvsc: ENST00000522835.1:c.16+48A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429718
  ensembl transcript: ENST00000522349
  gene symbol: ASPH
  hgvsc: ENST00000522349.1:c.16+48A>G
  variant of: http://identifiers.org/hgnc/757
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12434
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

8-62602187-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62602187
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62602187
    reference: chr 8
allele count: 1
allele frequency: 1.397233477714126e-5
allele num: 71570
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429954
  ensembl transcript: ENST00000517847
  gene symbol: ASPH
  hgvsc: ENST00000517847.2:c.16+45G>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429743
  ensembl transcript: ENST00000517856
  gene symbol: ASPH
  hgvsc: ENST00000517856.1:c.104-5440G>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368767
  ensembl transcript: ENST00000379454
  gene symbol: ASPH
  hgvsc: ENST00000379454.4:c.104-5440G>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000437864
  ensembl transcript: ENST00000541428
  gene symbol: ASPH
  hgvsc: ENST00000541428.1:c.16+45G>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000436188
  ensembl transcript: ENST00000522603
  gene symbol: ASPH
  hgvsc: ENST00000522603.1:c.16+45G>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427877
  ensembl transcript: ENST00000518306
  gene symbol: ASPH
  hgvsc: ENST00000518306.1:c.16+45G>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000373856
  ensembl transcript: ENST00000389204
  gene symbol: ASPH
  hgvsc: ENST00000389204.4:c.16+45G>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000348841
  ensembl transcript: ENST00000356457
  gene symbol: ASPH
  hgvsc: ENST00000356457.5:c.104-5440G>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl transcript: ENST00000522036
  gene symbol: ASPH
  hgvsc: ENST00000522036.1:n.27+45G>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429286
  ensembl transcript: ENST00000518068
  gene symbol: ASPH
  hgvsc: ENST00000518068.1:c.104-5440G>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000394013
  ensembl transcript: ENST00000445642
  gene symbol: ASPH
  hgvsc: ENST00000445642.3:c.16+45G>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427823
  ensembl transcript: ENST00000519234
  gene symbol: ASPH
  hgvsc: ENST00000519234.1:c.104-5440G>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000430245
  ensembl transcript: ENST00000517903
  gene symbol: ASPH
  hgvsc: ENST00000517903.1:c.16+45G>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368762
  ensembl transcript: ENST00000379449
  gene symbol: ASPH
  hgvsc: ENST00000379449.6:c.104-5440G>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl transcript: ENST00000522343
  gene symbol: ASPH
  hgvsc: ENST00000522343.1:n.43+45G>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000428060
  ensembl transcript: ENST00000517661
  gene symbol: ASPH
  hgvsc: ENST00000517661.1:c.16+45G>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429718
  ensembl transcript: ENST00000522349
  gene symbol: ASPH
  hgvsc: ENST00000522349.1:c.16+45G>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429160
  ensembl transcript: ENST00000522835
  gene symbol: ASPH
  hgvsc: ENST00000522835.1:c.16+45G>C
  variant of: http://identifiers.org/hgnc/757
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5759
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

8-62602189-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62602189
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62602189
    reference: chr 8
allele count: 1
allele frequency: 1.397858480807403e-5
allele num: 71538
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368767
  ensembl transcript: ENST00000379454
  gene symbol: ASPH
  hgvsc: ENST00000379454.4:c.104-5442C>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429286
  ensembl transcript: ENST00000518068
  gene symbol: ASPH
  hgvsc: ENST00000518068.1:c.104-5442C>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000394013
  ensembl transcript: ENST00000445642
  gene symbol: ASPH
  hgvsc: ENST00000445642.3:c.16+43C>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000436188
  ensembl transcript: ENST00000522603
  gene symbol: ASPH
  hgvsc: ENST00000522603.1:c.16+43C>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429160
  ensembl transcript: ENST00000522835
  gene symbol: ASPH
  hgvsc: ENST00000522835.1:c.16+43C>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000430245
  ensembl transcript: ENST00000517903
  gene symbol: ASPH
  hgvsc: ENST00000517903.1:c.16+43C>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000437864
  ensembl transcript: ENST00000541428
  gene symbol: ASPH
  hgvsc: ENST00000541428.1:c.16+43C>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429743
  ensembl transcript: ENST00000517856
  gene symbol: ASPH
  hgvsc: ENST00000517856.1:c.104-5442C>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000373856
  ensembl transcript: ENST00000389204
  gene symbol: ASPH
  hgvsc: ENST00000389204.4:c.16+43C>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000428060
  ensembl transcript: ENST00000517661
  gene symbol: ASPH
  hgvsc: ENST00000517661.1:c.16+43C>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427877
  ensembl transcript: ENST00000518306
  gene symbol: ASPH
  hgvsc: ENST00000518306.1:c.16+43C>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368762
  ensembl transcript: ENST00000379449
  gene symbol: ASPH
  hgvsc: ENST00000379449.6:c.104-5442C>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427823
  ensembl transcript: ENST00000519234
  gene symbol: ASPH
  hgvsc: ENST00000519234.1:c.104-5442C>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429718
  ensembl transcript: ENST00000522349
  gene symbol: ASPH
  hgvsc: ENST00000522349.1:c.16+43C>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl transcript: ENST00000522343
  gene symbol: ASPH
  hgvsc: ENST00000522343.1:n.43+43C>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429954
  ensembl transcript: ENST00000517847
  gene symbol: ASPH
  hgvsc: ENST00000517847.2:c.16+43C>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl transcript: ENST00000522036
  gene symbol: ASPH
  hgvsc: ENST00000522036.1:n.27+43C>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000348841
  ensembl transcript: ENST00000356457
  gene symbol: ASPH
  hgvsc: ENST00000356457.5:c.104-5442C>T
  variant of: http://identifiers.org/hgnc/757
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5257
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

8-62602191-TAGATCTAAAGCC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62602191
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62602179
    reference: chr 8
allele count: 1
allele frequency: 1.395751332942523e-5
allele num: 71646
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000430245
  ensembl transcript: ENST00000517903
  gene symbol: ASPH
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368762
  ensembl transcript: ENST00000379449
  gene symbol: ASPH
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl transcript: ENST00000522036
  gene symbol: ASPH
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000437864
  ensembl transcript: ENST00000541428
  gene symbol: ASPH
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368767
  ensembl transcript: ENST00000379454
  gene symbol: ASPH
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429954
  ensembl transcript: ENST00000517847
  gene symbol: ASPH
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427877
  ensembl transcript: ENST00000518306
  gene symbol: ASPH
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000436188
  ensembl transcript: ENST00000522603
  gene symbol: ASPH
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429160
  ensembl transcript: ENST00000522835
  gene symbol: ASPH
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000348841
  ensembl transcript: ENST00000356457
  gene symbol: ASPH
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429718
  ensembl transcript: ENST00000522349
  gene symbol: ASPH
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000373856
  ensembl transcript: ENST00000389204
  gene symbol: ASPH
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427823
  ensembl transcript: ENST00000519234
  gene symbol: ASPH
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429743
  ensembl transcript: ENST00000517856
  gene symbol: ASPH
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429286
  ensembl transcript: ENST00000518068
  gene symbol: ASPH
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl transcript: ENST00000522343
  gene symbol: ASPH
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000394013
  ensembl transcript: ENST00000445642
  gene symbol: ASPH
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000428060
  ensembl transcript: ENST00000517661
  gene symbol: ASPH
  variant of: http://identifiers.org/hgnc/757
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4608
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: TAGATCTAAAGCC
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/8-62602194-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62602194
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62602194
    reference: chr 8
allele count: 2
allele frequency: 2.795404355239986e-5
allele num: 71546
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000430245
  ensembl transcript: ENST00000517903
  gene symbol: ASPH
  hgvsc: ENST00000517903.1:c.16+38T>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000394013
  ensembl transcript: ENST00000445642
  gene symbol: ASPH
  hgvsc: ENST00000445642.3:c.16+38T>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl transcript: ENST00000522343
  gene symbol: ASPH
  hgvsc: ENST00000522343.1:n.43+38T>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl transcript: ENST00000522036
  gene symbol: ASPH
  hgvsc: ENST00000522036.1:n.27+38T>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368762
  ensembl transcript: ENST00000379449
  gene symbol: ASPH
  hgvsc: ENST00000379449.6:c.104-5447T>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429160
  ensembl transcript: ENST00000522835
  gene symbol: ASPH
  hgvsc: ENST00000522835.1:c.16+38T>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000373856
  ensembl transcript: ENST00000389204
  gene symbol: ASPH
  hgvsc: ENST00000389204.4:c.16+38T>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427823
  ensembl transcript: ENST00000519234
  gene symbol: ASPH
  hgvsc: ENST00000519234.1:c.104-5447T>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429954
  ensembl transcript: ENST00000517847
  gene symbol: ASPH
  hgvsc: ENST00000517847.2:c.16+38T>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429743
  ensembl transcript: ENST00000517856
  gene symbol: ASPH
  hgvsc: ENST00000517856.1:c.104-5447T>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000348841
  ensembl transcript: ENST00000356457
  gene symbol: ASPH
  hgvsc: ENST00000356457.5:c.104-5447T>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368767
  ensembl transcript: ENST00000379454
  gene symbol: ASPH
  hgvsc: ENST00000379454.4:c.104-5447T>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427877
  ensembl transcript: ENST00000518306
  gene symbol: ASPH
  hgvsc: ENST00000518306.1:c.16+38T>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000428060
  ensembl transcript: ENST00000517661
  gene symbol: ASPH
  hgvsc: ENST00000517661.1:c.16+38T>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429286
  ensembl transcript: ENST00000518068
  gene symbol: ASPH
  hgvsc: ENST00000518068.1:c.104-5447T>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429718
  ensembl transcript: ENST00000522349
  gene symbol: ASPH
  hgvsc: ENST00000522349.1:c.16+38T>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000436188
  ensembl transcript: ENST00000522603
  gene symbol: ASPH
  hgvsc: ENST00000522603.1:c.16+38T>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000437864
  ensembl transcript: ENST00000541428
  gene symbol: ASPH
  hgvsc: ENST00000541428.1:c.16+38T>G
  variant of: http://identifiers.org/hgnc/757
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3953
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

8-62602208-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62602208
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62602208
    reference: chr 8
allele count: 3
allele frequency: 4.215614636614018e-5
allele num: 71164
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429743
  ensembl transcript: ENST00000517856
  gene symbol: ASPH
  hgvsc: ENST00000517856.1:c.104-5461A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427877
  ensembl transcript: ENST00000518306
  gene symbol: ASPH
  hgvsc: ENST00000518306.1:c.16+24A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000348841
  ensembl transcript: ENST00000356457
  gene symbol: ASPH
  hgvsc: ENST00000356457.5:c.104-5461A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl transcript: ENST00000522036
  gene symbol: ASPH
  hgvsc: ENST00000522036.1:n.27+24A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000436188
  ensembl transcript: ENST00000522603
  gene symbol: ASPH
  hgvsc: ENST00000522603.1:c.16+24A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427823
  ensembl transcript: ENST00000519234
  gene symbol: ASPH
  hgvsc: ENST00000519234.1:c.104-5461A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000437864
  ensembl transcript: ENST00000541428
  gene symbol: ASPH
  hgvsc: ENST00000541428.1:c.16+24A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429160
  ensembl transcript: ENST00000522835
  gene symbol: ASPH
  hgvsc: ENST00000522835.1:c.16+24A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000428060
  ensembl transcript: ENST00000517661
  gene symbol: ASPH
  hgvsc: ENST00000517661.1:c.16+24A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368762
  ensembl transcript: ENST00000379449
  gene symbol: ASPH
  hgvsc: ENST00000379449.6:c.104-5461A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000394013
  ensembl transcript: ENST00000445642
  gene symbol: ASPH
  hgvsc: ENST00000445642.3:c.16+24A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000373856
  ensembl transcript: ENST00000389204
  gene symbol: ASPH
  hgvsc: ENST00000389204.4:c.16+24A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429286
  ensembl transcript: ENST00000518068
  gene symbol: ASPH
  hgvsc: ENST00000518068.1:c.104-5461A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000430245
  ensembl transcript: ENST00000517903
  gene symbol: ASPH
  hgvsc: ENST00000517903.1:c.16+24A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429954
  ensembl transcript: ENST00000517847
  gene symbol: ASPH
  hgvsc: ENST00000517847.2:c.16+24A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429718
  ensembl transcript: ENST00000522349
  gene symbol: ASPH
  hgvsc: ENST00000522349.1:c.16+24A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl transcript: ENST00000522343
  gene symbol: ASPH
  hgvsc: ENST00000522343.1:n.43+24A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368767
  ensembl transcript: ENST00000379454
  gene symbol: ASPH
  hgvsc: ENST00000379454.4:c.104-5461A>G
  variant of: http://identifiers.org/hgnc/757
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10183
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

8-62602226-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62602226
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62602226
    reference: chr 8
allele count: 1
allele frequency: 1.431926227160777e-5
allele num: 69836
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000394013
  ensembl transcript: ENST00000445642
  gene symbol: ASPH
  hgvsc: ENST00000445642.3:c.16+6T>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000437864
  ensembl transcript: ENST00000541428
  gene symbol: ASPH
  hgvsc: ENST00000541428.1:c.16+6T>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429743
  ensembl transcript: ENST00000517856
  gene symbol: ASPH
  hgvsc: ENST00000517856.1:c.104-5479T>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000373856
  ensembl transcript: ENST00000389204
  gene symbol: ASPH
  hgvsc: ENST00000389204.4:c.16+6T>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429954
  ensembl transcript: ENST00000517847
  gene symbol: ASPH
  hgvsc: ENST00000517847.2:c.16+6T>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429160
  ensembl transcript: ENST00000522835
  gene symbol: ASPH
  hgvsc: ENST00000522835.1:c.16+6T>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427823
  ensembl transcript: ENST00000519234
  gene symbol: ASPH
  hgvsc: ENST00000519234.1:c.104-5479T>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000430245
  ensembl transcript: ENST00000517903
  gene symbol: ASPH
  hgvsc: ENST00000517903.1:c.16+6T>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427877
  ensembl transcript: ENST00000518306
  gene symbol: ASPH
  hgvsc: ENST00000518306.1:c.16+6T>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl transcript: ENST00000522036
  gene symbol: ASPH
  hgvsc: ENST00000522036.1:n.27+6T>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl transcript: ENST00000522343
  gene symbol: ASPH
  hgvsc: ENST00000522343.1:n.43+6T>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429718
  ensembl transcript: ENST00000522349
  gene symbol: ASPH
  hgvsc: ENST00000522349.1:c.16+6T>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000436188
  ensembl transcript: ENST00000522603
  gene symbol: ASPH
  hgvsc: ENST00000522603.1:c.16+6T>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368767
  ensembl transcript: ENST00000379454
  gene symbol: ASPH
  hgvsc: ENST00000379454.4:c.104-5479T>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000428060
  ensembl transcript: ENST00000517661
  gene symbol: ASPH
  hgvsc: ENST00000517661.1:c.16+6T>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000348841
  ensembl transcript: ENST00000356457
  gene symbol: ASPH
  hgvsc: ENST00000356457.5:c.104-5479T>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429286
  ensembl transcript: ENST00000518068
  gene symbol: ASPH
  hgvsc: ENST00000518068.1:c.104-5479T>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368762
  ensembl transcript: ENST00000379449
  gene symbol: ASPH
  hgvsc: ENST00000379449.6:c.104-5479T>A
  variant of: http://identifiers.org/hgnc/757
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.16+6T>A
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

8-62602231-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62602231
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62602231
    reference: chr 8
allele count: 1
allele frequency: 1.447680815333835e-5
allele num: 69076
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000430245
  ensembl transcript: ENST00000517903
  gene symbol: ASPH
  hgvsc: ENST00000517903.1:c.16+1G>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000436188
  ensembl transcript: ENST00000522603
  gene symbol: ASPH
  hgvsc: ENST00000522603.1:c.16+1G>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429954
  ensembl transcript: ENST00000517847
  gene symbol: ASPH
  hgvsc: ENST00000517847.2:c.16+1G>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000394013
  ensembl transcript: ENST00000445642
  gene symbol: ASPH
  hgvsc: ENST00000445642.3:c.16+1G>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000428060
  ensembl transcript: ENST00000517661
  gene symbol: ASPH
  hgvsc: ENST00000517661.1:c.16+1G>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368762
  ensembl transcript: ENST00000379449
  gene symbol: ASPH
  hgvsc: ENST00000379449.6:c.104-5484G>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368767
  ensembl transcript: ENST00000379454
  gene symbol: ASPH
  hgvsc: ENST00000379454.4:c.104-5484G>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427877
  ensembl transcript: ENST00000518306
  gene symbol: ASPH
  hgvsc: ENST00000518306.1:c.16+1G>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000348841
  ensembl transcript: ENST00000356457
  gene symbol: ASPH
  hgvsc: ENST00000356457.5:c.104-5484G>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429718
  ensembl transcript: ENST00000522349
  gene symbol: ASPH
  hgvsc: ENST00000522349.1:c.16+1G>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000198363
  ensembl transcript: ENST00000522343
  gene symbol: ASPH
  hgvsc: ENST00000522343.1:n.43+1G>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000437864
  ensembl transcript: ENST00000541428
  gene symbol: ASPH
  hgvsc: ENST00000541428.1:c.16+1G>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000198363
  ensembl transcript: ENST00000522036
  gene symbol: ASPH
  hgvsc: ENST00000522036.1:n.27+1G>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429743
  ensembl transcript: ENST00000517856
  gene symbol: ASPH
  hgvsc: ENST00000517856.1:c.104-5484G>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429286
  ensembl transcript: ENST00000518068
  gene symbol: ASPH
  hgvsc: ENST00000518068.1:c.104-5484G>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427823
  ensembl transcript: ENST00000519234
  gene symbol: ASPH
  hgvsc: ENST00000519234.1:c.104-5484G>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000373856
  ensembl transcript: ENST00000389204
  gene symbol: ASPH
  hgvsc: ENST00000389204.4:c.16+1G>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429160
  ensembl transcript: ENST00000522835
  gene symbol: ASPH
  hgvsc: ENST00000522835.1:c.16+1G>C
  variant of: http://identifiers.org/hgnc/757
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4919
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.16+1G>C
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

8-62602231-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62602231
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62602231
    reference: chr 8
allele count: 1
allele frequency: 1.447680815333835e-5
allele num: 69076
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000430245
  ensembl transcript: ENST00000517903
  gene symbol: ASPH
  hgvsc: ENST00000517903.1:c.16+1G>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000198363
  ensembl transcript: ENST00000522343
  gene symbol: ASPH
  hgvsc: ENST00000522343.1:n.43+1G>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000198363
  ensembl transcript: ENST00000522036
  gene symbol: ASPH
  hgvsc: ENST00000522036.1:n.27+1G>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000348841
  ensembl transcript: ENST00000356457
  gene symbol: ASPH
  hgvsc: ENST00000356457.5:c.104-5484G>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000394013
  ensembl transcript: ENST00000445642
  gene symbol: ASPH
  hgvsc: ENST00000445642.3:c.16+1G>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000428060
  ensembl transcript: ENST00000517661
  gene symbol: ASPH
  hgvsc: ENST00000517661.1:c.16+1G>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000437864
  ensembl transcript: ENST00000541428
  gene symbol: ASPH
  hgvsc: ENST00000541428.1:c.16+1G>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000436188
  ensembl transcript: ENST00000522603
  gene symbol: ASPH
  hgvsc: ENST00000522603.1:c.16+1G>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368762
  ensembl transcript: ENST00000379449
  gene symbol: ASPH
  hgvsc: ENST00000379449.6:c.104-5484G>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000373856
  ensembl transcript: ENST00000389204
  gene symbol: ASPH
  hgvsc: ENST00000389204.4:c.16+1G>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429743
  ensembl transcript: ENST00000517856
  gene symbol: ASPH
  hgvsc: ENST00000517856.1:c.104-5484G>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429160
  ensembl transcript: ENST00000522835
  gene symbol: ASPH
  hgvsc: ENST00000522835.1:c.16+1G>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429718
  ensembl transcript: ENST00000522349
  gene symbol: ASPH
  hgvsc: ENST00000522349.1:c.16+1G>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427823
  ensembl transcript: ENST00000519234
  gene symbol: ASPH
  hgvsc: ENST00000519234.1:c.104-5484G>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427877
  ensembl transcript: ENST00000518306
  gene symbol: ASPH
  hgvsc: ENST00000518306.1:c.16+1G>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429286
  ensembl transcript: ENST00000518068
  gene symbol: ASPH
  hgvsc: ENST00000518068.1:c.104-5484G>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429954
  ensembl transcript: ENST00000517847
  gene symbol: ASPH
  hgvsc: ENST00000517847.2:c.16+1G>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368767
  ensembl transcript: ENST00000379454
  gene symbol: ASPH
  hgvsc: ENST00000379454.4:c.104-5484G>A
  variant of: http://identifiers.org/hgnc/757
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20868
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4919
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.16+1G>A
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum

8-62602249-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62602249
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62602249
    reference: chr 8
allele count: 2
allele frequency: 2.982403817476887e-5
allele num: 67060
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429160
  ensembl transcript: ENST00000522835
  gene symbol: ASPH
  hgvsc: ENST00000522835.1:c.-2A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429954
  ensembl transcript: ENST00000517847
  gene symbol: ASPH
  hgvsc: ENST00000517847.2:c.-2A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000348841
  ensembl transcript: ENST00000356457
  gene symbol: ASPH
  hgvsc: ENST00000356457.5:c.104-5502A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000428060
  ensembl transcript: ENST00000517661
  gene symbol: ASPH
  hgvsc: ENST00000517661.1:c.-2A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198363
  ensembl transcript: ENST00000522343
  gene symbol: ASPH
  hgvsc: ENST00000522343.1:n.26A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427823
  ensembl transcript: ENST00000519234
  gene symbol: ASPH
  hgvsc: ENST00000519234.1:c.104-5502A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429743
  ensembl transcript: ENST00000517856
  gene symbol: ASPH
  hgvsc: ENST00000517856.1:c.104-5502A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368762
  ensembl transcript: ENST00000379449
  gene symbol: ASPH
  hgvsc: ENST00000379449.6:c.104-5502A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000394013
  ensembl transcript: ENST00000445642
  gene symbol: ASPH
  hgvsc: ENST00000445642.3:c.-2A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429718
  ensembl transcript: ENST00000522349
  gene symbol: ASPH
  hgvsc: ENST00000522349.1:c.-2A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427877
  ensembl transcript: ENST00000518306
  gene symbol: ASPH
  hgvsc: ENST00000518306.1:c.-2A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429286
  ensembl transcript: ENST00000518068
  gene symbol: ASPH
  hgvsc: ENST00000518068.1:c.104-5502A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000437864
  ensembl transcript: ENST00000541428
  gene symbol: ASPH
  hgvsc: ENST00000541428.1:c.-2A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000373856
  ensembl transcript: ENST00000389204
  gene symbol: ASPH
  hgvsc: ENST00000389204.4:c.-2A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000436188
  ensembl transcript: ENST00000522603
  gene symbol: ASPH
  hgvsc: ENST00000522603.1:c.-2A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000430245
  ensembl transcript: ENST00000517903
  gene symbol: ASPH
  hgvsc: ENST00000517903.1:c.-2A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198363
  ensembl transcript: ENST00000522036
  gene symbol: ASPH
  hgvsc: ENST00000522036.1:n.10A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368767
  ensembl transcript: ENST00000379454
  gene symbol: ASPH
  hgvsc: ENST00000379454.4:c.104-5502A>G
  variant of: http://identifiers.org/hgnc/757
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6416
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

8-62602255-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62602255
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62602255
    reference: chr 8
allele count: 1
allele frequency: 1.516392199678525e-5
allele num: 65946
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198363
  ensembl transcript: ENST00000522036
  gene symbol: ASPH
  hgvsc: ENST00000522036.1:n.4A>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427823
  ensembl transcript: ENST00000519234
  gene symbol: ASPH
  hgvsc: ENST00000519234.1:c.104-5508A>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000428060
  ensembl transcript: ENST00000517661
  gene symbol: ASPH
  hgvsc: ENST00000517661.1:c.-8A>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429718
  ensembl transcript: ENST00000522349
  gene symbol: ASPH
  hgvsc: ENST00000522349.1:c.-8A>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000394013
  ensembl transcript: ENST00000445642
  gene symbol: ASPH
  hgvsc: ENST00000445642.3:c.-8A>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427877
  ensembl transcript: ENST00000518306
  gene symbol: ASPH
  hgvsc: ENST00000518306.1:c.-8A>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000437864
  ensembl transcript: ENST00000541428
  gene symbol: ASPH
  hgvsc: ENST00000541428.1:c.-8A>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368762
  ensembl transcript: ENST00000379449
  gene symbol: ASPH
  hgvsc: ENST00000379449.6:c.104-5508A>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000436188
  ensembl transcript: ENST00000522603
  gene symbol: ASPH
  hgvsc: ENST00000522603.1:c.-8A>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429160
  ensembl transcript: ENST00000522835
  gene symbol: ASPH
  hgvsc: ENST00000522835.1:c.-8A>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429743
  ensembl transcript: ENST00000517856
  gene symbol: ASPH
  hgvsc: ENST00000517856.1:c.104-5508A>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429954
  ensembl transcript: ENST00000517847
  gene symbol: ASPH
  hgvsc: ENST00000517847.2:c.-8A>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000430245
  ensembl transcript: ENST00000517903
  gene symbol: ASPH
  hgvsc: ENST00000517903.1:c.-8A>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000373856
  ensembl transcript: ENST00000389204
  gene symbol: ASPH
  hgvsc: ENST00000389204.4:c.-8A>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368767
  ensembl transcript: ENST00000379454
  gene symbol: ASPH
  hgvsc: ENST00000379454.4:c.104-5508A>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198363
  ensembl transcript: ENST00000522343
  gene symbol: ASPH
  hgvsc: ENST00000522343.1:n.20A>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429286
  ensembl transcript: ENST00000518068
  gene symbol: ASPH
  hgvsc: ENST00000518068.1:c.104-5508A>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000348841
  ensembl transcript: ENST00000356457
  gene symbol: ASPH
  hgvsc: ENST00000356457.5:c.104-5508A>C
  variant of: http://identifiers.org/hgnc/757
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19872
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7379
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: T
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

8-62602280-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62602280
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62602280
    reference: chr 8
allele count: 1
allele frequency: 1.791023390765483e-5
allele num: 55834
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429160
  ensembl transcript: ENST00000522835
  gene symbol: ASPH
  hgvsc: ENST00000522835.1:c.-33A>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427823
  ensembl transcript: ENST00000519234
  gene symbol: ASPH
  hgvsc: ENST00000519234.1:c.104-5533A>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000437864
  ensembl transcript: ENST00000541428
  gene symbol: ASPH
  hgvsc: ENST00000541428.1:c.-33A>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000430245
  ensembl transcript: ENST00000517903
  gene symbol: ASPH
  hgvsc: ENST00000517903.1:c.-33A>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427877
  ensembl transcript: ENST00000518306
  gene symbol: ASPH
  hgvsc: ENST00000518306.1:c.-33A>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429718
  ensembl transcript: ENST00000522349
  gene symbol: ASPH
  hgvsc: ENST00000522349.1:c.-33A>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429286
  ensembl transcript: ENST00000518068
  gene symbol: ASPH
  hgvsc: ENST00000518068.1:c.104-5533A>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000373856
  ensembl transcript: ENST00000389204
  gene symbol: ASPH
  hgvsc: ENST00000389204.4:c.-33A>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000394013
  ensembl transcript: ENST00000445642
  gene symbol: ASPH
  hgvsc: ENST00000445642.3:c.-33A>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000428060
  ensembl transcript: ENST00000517661
  gene symbol: ASPH
  hgvsc: ENST00000517661.1:c.-33A>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429743
  ensembl transcript: ENST00000517856
  gene symbol: ASPH
  hgvsc: ENST00000517856.1:c.104-5533A>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429954
  ensembl transcript: ENST00000517847
  gene symbol: ASPH
  hgvsc: ENST00000517847.2:c.-33A>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368762
  ensembl transcript: ENST00000379449
  gene symbol: ASPH
  hgvsc: ENST00000379449.6:c.104-5533A>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000348841
  ensembl transcript: ENST00000356457
  gene symbol: ASPH
  hgvsc: ENST00000356457.5:c.104-5533A>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368767
  ensembl transcript: ENST00000379454
  gene symbol: ASPH
  hgvsc: ENST00000379454.4:c.104-5533A>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000436188
  ensembl transcript: ENST00000522603
  gene symbol: ASPH
  hgvsc: ENST00000522603.1:c.-33A>T
  variant of: http://identifiers.org/hgnc/757
canonical: false
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3766
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19643
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum

8-62602284-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62602284
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62602284
    reference: chr 8
allele count: 1
allele frequency: 1.923890876909462e-5
allele num: 51978
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427877
  ensembl transcript: ENST00000518306
  gene symbol: ASPH
  hgvsc: ENST00000518306.1:c.-37C>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000430245
  ensembl transcript: ENST00000517903
  gene symbol: ASPH
  hgvsc: ENST00000517903.1:c.-37C>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429718
  ensembl transcript: ENST00000522349
  gene symbol: ASPH
  hgvsc: ENST00000522349.1:c.-37C>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368767
  ensembl transcript: ENST00000379454
  gene symbol: ASPH
  hgvsc: ENST00000379454.4:c.104-5537C>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427823
  ensembl transcript: ENST00000519234
  gene symbol: ASPH
  hgvsc: ENST00000519234.1:c.104-5537C>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000437864
  ensembl transcript: ENST00000541428
  gene symbol: ASPH
  hgvsc: ENST00000541428.1:c.-37C>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429954
  ensembl transcript: ENST00000517847
  gene symbol: ASPH
  hgvsc: ENST00000517847.2:c.-37C>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000436188
  ensembl transcript: ENST00000522603
  gene symbol: ASPH
  hgvsc: ENST00000522603.1:c.-37C>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429743
  ensembl transcript: ENST00000517856
  gene symbol: ASPH
  hgvsc: ENST00000517856.1:c.104-5537C>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000428060
  ensembl transcript: ENST00000517661
  gene symbol: ASPH
  hgvsc: ENST00000517661.1:c.-37C>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000373856
  ensembl transcript: ENST00000389204
  gene symbol: ASPH
  hgvsc: ENST00000389204.4:c.-37C>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368762
  ensembl transcript: ENST00000379449
  gene symbol: ASPH
  hgvsc: ENST00000379449.6:c.104-5537C>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429286
  ensembl transcript: ENST00000518068
  gene symbol: ASPH
  hgvsc: ENST00000518068.1:c.104-5537C>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000348841
  ensembl transcript: ENST00000356457
  gene symbol: ASPH
  hgvsc: ENST00000356457.5:c.104-5537C>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000394013
  ensembl transcript: ENST00000445642
  gene symbol: ASPH
  hgvsc: ENST00000445642.3:c.-37C>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429160
  ensembl transcript: ENST00000522835
  gene symbol: ASPH
  hgvsc: ENST00000522835.1:c.-37C>G
  variant of: http://identifiers.org/hgnc/757
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11332
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

8-62602285-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62602285
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62602285
    reference: chr 8
allele count: 9
allele frequency: 1.846987358397636e-4
allele num: 48728
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000394013
  ensembl transcript: ENST00000445642
  gene symbol: ASPH
  hgvsc: ENST00000445642.3:c.-38A>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429954
  ensembl transcript: ENST00000517847
  gene symbol: ASPH
  hgvsc: ENST00000517847.2:c.-38A>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429743
  ensembl transcript: ENST00000517856
  gene symbol: ASPH
  hgvsc: ENST00000517856.1:c.104-5538A>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368767
  ensembl transcript: ENST00000379454
  gene symbol: ASPH
  hgvsc: ENST00000379454.4:c.104-5538A>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000436188
  ensembl transcript: ENST00000522603
  gene symbol: ASPH
  hgvsc: ENST00000522603.1:c.-38A>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429286
  ensembl transcript: ENST00000518068
  gene symbol: ASPH
  hgvsc: ENST00000518068.1:c.104-5538A>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429160
  ensembl transcript: ENST00000522835
  gene symbol: ASPH
  hgvsc: ENST00000522835.1:c.-38A>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429718
  ensembl transcript: ENST00000522349
  gene symbol: ASPH
  hgvsc: ENST00000522349.1:c.-38A>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427877
  ensembl transcript: ENST00000518306
  gene symbol: ASPH
  hgvsc: ENST00000518306.1:c.-38A>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000373856
  ensembl transcript: ENST00000389204
  gene symbol: ASPH
  hgvsc: ENST00000389204.4:c.-38A>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000348841
  ensembl transcript: ENST00000356457
  gene symbol: ASPH
  hgvsc: ENST00000356457.5:c.104-5538A>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000437864
  ensembl transcript: ENST00000541428
  gene symbol: ASPH
  hgvsc: ENST00000541428.1:c.-38A>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000430245
  ensembl transcript: ENST00000517903
  gene symbol: ASPH
  hgvsc: ENST00000517903.1:c.-38A>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368762
  ensembl transcript: ENST00000379449
  gene symbol: ASPH
  hgvsc: ENST00000379449.6:c.104-5538A>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427823
  ensembl transcript: ENST00000519234
  gene symbol: ASPH
  hgvsc: ENST00000519234.1:c.104-5538A>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000428060
  ensembl transcript: ENST00000517661
  gene symbol: ASPH
  hgvsc: ENST00000517661.1:c.-38A>T
  variant of: http://identifiers.org/hgnc/757
canonical: false
consequence: 5' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20647
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12063
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

8-62602285-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62602285
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62602285
    reference: chr 8
allele count: 1
allele frequency: 2.052208175997373e-5
allele num: 48728
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000373856
  ensembl transcript: ENST00000389204
  gene symbol: ASPH
  hgvsc: ENST00000389204.4:c.-38A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000428060
  ensembl transcript: ENST00000517661
  gene symbol: ASPH
  hgvsc: ENST00000517661.1:c.-38A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000394013
  ensembl transcript: ENST00000445642
  gene symbol: ASPH
  hgvsc: ENST00000445642.3:c.-38A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429160
  ensembl transcript: ENST00000522835
  gene symbol: ASPH
  hgvsc: ENST00000522835.1:c.-38A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000436188
  ensembl transcript: ENST00000522603
  gene symbol: ASPH
  hgvsc: ENST00000522603.1:c.-38A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000430245
  ensembl transcript: ENST00000517903
  gene symbol: ASPH
  hgvsc: ENST00000517903.1:c.-38A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368767
  ensembl transcript: ENST00000379454
  gene symbol: ASPH
  hgvsc: ENST00000379454.4:c.104-5538A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368762
  ensembl transcript: ENST00000379449
  gene symbol: ASPH
  hgvsc: ENST00000379449.6:c.104-5538A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427877
  ensembl transcript: ENST00000518306
  gene symbol: ASPH
  hgvsc: ENST00000518306.1:c.-38A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429954
  ensembl transcript: ENST00000517847
  gene symbol: ASPH
  hgvsc: ENST00000517847.2:c.-38A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429743
  ensembl transcript: ENST00000517856
  gene symbol: ASPH
  hgvsc: ENST00000517856.1:c.104-5538A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429718
  ensembl transcript: ENST00000522349
  gene symbol: ASPH
  hgvsc: ENST00000522349.1:c.-38A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000348841
  ensembl transcript: ENST00000356457
  gene symbol: ASPH
  hgvsc: ENST00000356457.5:c.104-5538A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000437864
  ensembl transcript: ENST00000541428
  gene symbol: ASPH
  hgvsc: ENST00000541428.1:c.-38A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429286
  ensembl transcript: ENST00000518068
  gene symbol: ASPH
  hgvsc: ENST00000518068.1:c.104-5538A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427823
  ensembl transcript: ENST00000519234
  gene symbol: ASPH
  hgvsc: ENST00000519234.1:c.104-5538A>G
  variant of: http://identifiers.org/hgnc/757
canonical: false
consequence: 5' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12063
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

8-62602285-T-TAAAAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62602285
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62602290
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 48728
alternate allele: TAAAAC
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000394013
  ensembl transcript: ENST00000445642
  gene symbol: ASPH
  hgvsc: ENST00000445642.3:c.-43_-39dupGTTTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429743
  ensembl transcript: ENST00000517856
  gene symbol: ASPH
  hgvsc: ENST00000517856.1:c.104-5543_104-5539dupGTTTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429286
  ensembl transcript: ENST00000518068
  gene symbol: ASPH
  hgvsc: ENST00000518068.1:c.104-5543_104-5539dupGTTTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429160
  ensembl transcript: ENST00000522835
  gene symbol: ASPH
  hgvsc: ENST00000522835.1:c.-43_-39dupGTTTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000436188
  ensembl transcript: ENST00000522603
  gene symbol: ASPH
  hgvsc: ENST00000522603.1:c.-43_-39dupGTTTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427823
  ensembl transcript: ENST00000519234
  gene symbol: ASPH
  hgvsc: ENST00000519234.1:c.104-5543_104-5539dupGTTTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000430245
  ensembl transcript: ENST00000517903
  gene symbol: ASPH
  hgvsc: ENST00000517903.1:c.-43_-39dupGTTTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000437864
  ensembl transcript: ENST00000541428
  gene symbol: ASPH
  hgvsc: ENST00000541428.1:c.-43_-39dupGTTTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000348841
  ensembl transcript: ENST00000356457
  gene symbol: ASPH
  hgvsc: ENST00000356457.5:c.104-5543_104-5539dupGTTTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427877
  ensembl transcript: ENST00000518306
  gene symbol: ASPH
  hgvsc: ENST00000518306.1:c.-43_-39dupGTTTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429718
  ensembl transcript: ENST00000522349
  gene symbol: ASPH
  hgvsc: ENST00000522349.1:c.-43_-39dupGTTTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000373856
  ensembl transcript: ENST00000389204
  gene symbol: ASPH
  hgvsc: ENST00000389204.4:c.-43_-39dupGTTTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000428060
  ensembl transcript: ENST00000517661
  gene symbol: ASPH
  hgvsc: ENST00000517661.1:c.-43_-39dupGTTTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368767
  ensembl transcript: ENST00000379454
  gene symbol: ASPH
  hgvsc: ENST00000379454.4:c.104-5543_104-5539dupGTTTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429954
  ensembl transcript: ENST00000517847
  gene symbol: ASPH
  hgvsc: ENST00000517847.2:c.-43_-39dupGTTTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368762
  ensembl transcript: ENST00000379449
  gene symbol: ASPH
  hgvsc: ENST00000379449.6:c.104-5543_104-5539dupGTTTT
  variant of: http://identifiers.org/hgnc/757
canonical: false
consequence: 5' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12063
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20647
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/8-62602290-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62602290
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62602290
    reference: chr 8
allele count: 5
allele frequency: 1.278118609406953e-4
allele num: 39120
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000394013
  ensembl transcript: ENST00000445642
  gene symbol: ASPH
  hgvsc: ENST00000445642.3:c.-43G>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000430245
  ensembl transcript: ENST00000517903
  gene symbol: ASPH
  hgvsc: ENST00000517903.1:c.-43G>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429954
  ensembl transcript: ENST00000517847
  gene symbol: ASPH
  hgvsc: ENST00000517847.2:c.-43G>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429286
  ensembl transcript: ENST00000518068
  gene symbol: ASPH
  hgvsc: ENST00000518068.1:c.104-5543G>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000428060
  ensembl transcript: ENST00000517661
  gene symbol: ASPH
  hgvsc: ENST00000517661.1:c.-43G>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368767
  ensembl transcript: ENST00000379454
  gene symbol: ASPH
  hgvsc: ENST00000379454.4:c.104-5543G>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427877
  ensembl transcript: ENST00000518306
  gene symbol: ASPH
  hgvsc: ENST00000518306.1:c.-43G>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429743
  ensembl transcript: ENST00000517856
  gene symbol: ASPH
  hgvsc: ENST00000517856.1:c.104-5543G>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000436188
  ensembl transcript: ENST00000522603
  gene symbol: ASPH
  hgvsc: ENST00000522603.1:c.-43G>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429160
  ensembl transcript: ENST00000522835
  gene symbol: ASPH
  hgvsc: ENST00000522835.1:c.-43G>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000437864
  ensembl transcript: ENST00000541428
  gene symbol: ASPH
  hgvsc: ENST00000541428.1:c.-43G>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000373856
  ensembl transcript: ENST00000389204
  gene symbol: ASPH
  hgvsc: ENST00000389204.4:c.-43G>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427823
  ensembl transcript: ENST00000519234
  gene symbol: ASPH
  hgvsc: ENST00000519234.1:c.104-5543G>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000348841
  ensembl transcript: ENST00000356457
  gene symbol: ASPH
  hgvsc: ENST00000356457.5:c.104-5543G>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368762
  ensembl transcript: ENST00000379449
  gene symbol: ASPH
  hgvsc: ENST00000379449.6:c.104-5543G>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429718
  ensembl transcript: ENST00000522349
  gene symbol: ASPH
  hgvsc: ENST00000522349.1:c.-43G>T
  variant of: http://identifiers.org/hgnc/757
canonical: false
consequence: 5' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 11383
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11009
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/8-62602290-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62602290
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62602291
    reference: chr 8
allele count: 7
allele frequency: 1.789366053169734e-4
allele num: 39120
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427877
  ensembl transcript: ENST00000518306
  gene symbol: ASPH
  hgvsc: ENST00000518306.1:c.-44dupT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000394013
  ensembl transcript: ENST00000445642
  gene symbol: ASPH
  hgvsc: ENST00000445642.3:c.-44dupT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368762
  ensembl transcript: ENST00000379449
  gene symbol: ASPH
  hgvsc: ENST00000379449.6:c.104-5544dupT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429160
  ensembl transcript: ENST00000522835
  gene symbol: ASPH
  hgvsc: ENST00000522835.1:c.-44dupT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429954
  ensembl transcript: ENST00000517847
  gene symbol: ASPH
  hgvsc: ENST00000517847.2:c.-44dupT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000436188
  ensembl transcript: ENST00000522603
  gene symbol: ASPH
  hgvsc: ENST00000522603.1:c.-44dupT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429286
  ensembl transcript: ENST00000518068
  gene symbol: ASPH
  hgvsc: ENST00000518068.1:c.104-5544dupT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368767
  ensembl transcript: ENST00000379454
  gene symbol: ASPH
  hgvsc: ENST00000379454.4:c.104-5544dupT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000430245
  ensembl transcript: ENST00000517903
  gene symbol: ASPH
  hgvsc: ENST00000517903.1:c.-44dupT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000373856
  ensembl transcript: ENST00000389204
  gene symbol: ASPH
  hgvsc: ENST00000389204.4:c.-44dupT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429743
  ensembl transcript: ENST00000517856
  gene symbol: ASPH
  hgvsc: ENST00000517856.1:c.104-5544dupT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429718
  ensembl transcript: ENST00000522349
  gene symbol: ASPH
  hgvsc: ENST00000522349.1:c.-44dupT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427823
  ensembl transcript: ENST00000519234
  gene symbol: ASPH
  hgvsc: ENST00000519234.1:c.104-5544dupT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000437864
  ensembl transcript: ENST00000541428
  gene symbol: ASPH
  hgvsc: ENST00000541428.1:c.-44dupT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000348841
  ensembl transcript: ENST00000356457
  gene symbol: ASPH
  hgvsc: ENST00000356457.5:c.104-5544dupT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000428060
  ensembl transcript: ENST00000517661
  gene symbol: ASPH
  hgvsc: ENST00000517661.1:c.-44dupT
  variant of: http://identifiers.org/hgnc/757
canonical: false
consequence: 5' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 11009
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3747
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11383
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21351
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/8-62602290-C-CAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62602290
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62602292
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 39120
alternate allele: CAA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368762
  ensembl transcript: ENST00000379449
  gene symbol: ASPH
  hgvsc: ENST00000379449.6:c.104-5545_104-5544dupTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429160
  ensembl transcript: ENST00000522835
  gene symbol: ASPH
  hgvsc: ENST00000522835.1:c.-45_-44dupTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427823
  ensembl transcript: ENST00000519234
  gene symbol: ASPH
  hgvsc: ENST00000519234.1:c.104-5545_104-5544dupTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000436188
  ensembl transcript: ENST00000522603
  gene symbol: ASPH
  hgvsc: ENST00000522603.1:c.-45_-44dupTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368767
  ensembl transcript: ENST00000379454
  gene symbol: ASPH
  hgvsc: ENST00000379454.4:c.104-5545_104-5544dupTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000437864
  ensembl transcript: ENST00000541428
  gene symbol: ASPH
  hgvsc: ENST00000541428.1:c.-45_-44dupTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000348841
  ensembl transcript: ENST00000356457
  gene symbol: ASPH
  hgvsc: ENST00000356457.5:c.104-5545_104-5544dupTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429743
  ensembl transcript: ENST00000517856
  gene symbol: ASPH
  hgvsc: ENST00000517856.1:c.104-5545_104-5544dupTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429286
  ensembl transcript: ENST00000518068
  gene symbol: ASPH
  hgvsc: ENST00000518068.1:c.104-5545_104-5544dupTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427877
  ensembl transcript: ENST00000518306
  gene symbol: ASPH
  hgvsc: ENST00000518306.1:c.-45_-44dupTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429954
  ensembl transcript: ENST00000517847
  gene symbol: ASPH
  hgvsc: ENST00000517847.2:c.-45_-44dupTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000373856
  ensembl transcript: ENST00000389204
  gene symbol: ASPH
  hgvsc: ENST00000389204.4:c.-45_-44dupTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000428060
  ensembl transcript: ENST00000517661
  gene symbol: ASPH
  hgvsc: ENST00000517661.1:c.-45_-44dupTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429718
  ensembl transcript: ENST00000522349
  gene symbol: ASPH
  hgvsc: ENST00000522349.1:c.-45_-44dupTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000394013
  ensembl transcript: ENST00000445642
  gene symbol: ASPH
  hgvsc: ENST00000445642.3:c.-45_-44dupTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000430245
  ensembl transcript: ENST00000517903
  gene symbol: ASPH
  hgvsc: ENST00000517903.1:c.-45_-44dupTT
  variant of: http://identifiers.org/hgnc/757
canonical: false
consequence: 5' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11009
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11383
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3747
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21351
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

8-62602290-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62602290
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62602290
    reference: chr 8
allele count: 3
allele frequency: 7.668711656441718e-5
allele num: 39120
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368767
  ensembl transcript: ENST00000379454
  gene symbol: ASPH
  hgvsc: ENST00000379454.4:c.104-5543G>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000394013
  ensembl transcript: ENST00000445642
  gene symbol: ASPH
  hgvsc: ENST00000445642.3:c.-43G>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429743
  ensembl transcript: ENST00000517856
  gene symbol: ASPH
  hgvsc: ENST00000517856.1:c.104-5543G>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368762
  ensembl transcript: ENST00000379449
  gene symbol: ASPH
  hgvsc: ENST00000379449.6:c.104-5543G>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429718
  ensembl transcript: ENST00000522349
  gene symbol: ASPH
  hgvsc: ENST00000522349.1:c.-43G>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427823
  ensembl transcript: ENST00000519234
  gene symbol: ASPH
  hgvsc: ENST00000519234.1:c.104-5543G>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427877
  ensembl transcript: ENST00000518306
  gene symbol: ASPH
  hgvsc: ENST00000518306.1:c.-43G>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429954
  ensembl transcript: ENST00000517847
  gene symbol: ASPH
  hgvsc: ENST00000517847.2:c.-43G>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000436188
  ensembl transcript: ENST00000522603
  gene symbol: ASPH
  hgvsc: ENST00000522603.1:c.-43G>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429286
  ensembl transcript: ENST00000518068
  gene symbol: ASPH
  hgvsc: ENST00000518068.1:c.104-5543G>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429160
  ensembl transcript: ENST00000522835
  gene symbol: ASPH
  hgvsc: ENST00000522835.1:c.-43G>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000373856
  ensembl transcript: ENST00000389204
  gene symbol: ASPH
  hgvsc: ENST00000389204.4:c.-43G>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000348841
  ensembl transcript: ENST00000356457
  gene symbol: ASPH
  hgvsc: ENST00000356457.5:c.104-5543G>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000437864
  ensembl transcript: ENST00000541428
  gene symbol: ASPH
  hgvsc: ENST00000541428.1:c.-43G>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000428060
  ensembl transcript: ENST00000517661
  gene symbol: ASPH
  hgvsc: ENST00000517661.1:c.-43G>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000430245
  ensembl transcript: ENST00000517903
  gene symbol: ASPH
  hgvsc: ENST00000517903.1:c.-43G>A
  variant of: http://identifiers.org/hgnc/757
canonical: false
consequence: 5' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11009
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

8-62602292-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62602292
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62602292
    reference: chr 8
allele count: 1
allele frequency: 2.14638334406525e-5
allele num: 46590
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429743
  ensembl transcript: ENST00000517856
  gene symbol: ASPH
  hgvsc: ENST00000517856.1:c.104-5545T>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427877
  ensembl transcript: ENST00000518306
  gene symbol: ASPH
  hgvsc: ENST00000518306.1:c.-45T>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429954
  ensembl transcript: ENST00000517847
  gene symbol: ASPH
  hgvsc: ENST00000517847.2:c.-45T>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429286
  ensembl transcript: ENST00000518068
  gene symbol: ASPH
  hgvsc: ENST00000518068.1:c.104-5545T>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000373856
  ensembl transcript: ENST00000389204
  gene symbol: ASPH
  hgvsc: ENST00000389204.4:c.-45T>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000428060
  ensembl transcript: ENST00000517661
  gene symbol: ASPH
  hgvsc: ENST00000517661.1:c.-45T>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000394013
  ensembl transcript: ENST00000445642
  gene symbol: ASPH
  hgvsc: ENST00000445642.3:c.-45T>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429160
  ensembl transcript: ENST00000522835
  gene symbol: ASPH
  hgvsc: ENST00000522835.1:c.-45T>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368762
  ensembl transcript: ENST00000379449
  gene symbol: ASPH
  hgvsc: ENST00000379449.6:c.104-5545T>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368767
  ensembl transcript: ENST00000379454
  gene symbol: ASPH
  hgvsc: ENST00000379454.4:c.104-5545T>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429718
  ensembl transcript: ENST00000522349
  gene symbol: ASPH
  hgvsc: ENST00000522349.1:c.-45T>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000437864
  ensembl transcript: ENST00000541428
  gene symbol: ASPH
  hgvsc: ENST00000541428.1:c.-45T>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427823
  ensembl transcript: ENST00000519234
  gene symbol: ASPH
  hgvsc: ENST00000519234.1:c.104-5545T>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000436188
  ensembl transcript: ENST00000522603
  gene symbol: ASPH
  hgvsc: ENST00000522603.1:c.-45T>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000348841
  ensembl transcript: ENST00000356457
  gene symbol: ASPH
  hgvsc: ENST00000356457.5:c.104-5545T>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000430245
  ensembl transcript: ENST00000517903
  gene symbol: ASPH
  hgvsc: ENST00000517903.1:c.-45T>C
  variant of: http://identifiers.org/hgnc/757
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21776
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11433
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/8-62602295-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62602295
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62602295
    reference: chr 8
allele count: 18
allele frequency: 1.008403361344538e-3
allele num: 17850
alternate allele: A
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10667
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22500
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10593
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3677
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3869
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8725
  bin: 7.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3348
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30692
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 178
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 10
  allele frequency: 1.12943302462164e-3
  allele num: 8854
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 2
  allele frequency: 1.976284584980237e-3
  allele num: 1012
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1172
  num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/8-62602295-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62602295
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62602296
    reference: chr 8
allele count: 1825
allele frequency: 1.022408963585434e-1
allele num: 17850
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000348841
  ensembl transcript: ENST00000356457
  gene symbol: ASPH
  hgvsc: ENST00000356457.5:c.104-5549dupT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429954
  ensembl transcript: ENST00000517847
  gene symbol: ASPH
  hgvsc: ENST00000517847.2:c.-49dupT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429718
  ensembl transcript: ENST00000522349
  gene symbol: ASPH
  hgvsc: ENST00000522349.1:c.-49dupT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000394013
  ensembl transcript: ENST00000445642
  gene symbol: ASPH
  hgvsc: ENST00000445642.3:c.-49dupT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000436188
  ensembl transcript: ENST00000522603
  gene symbol: ASPH
  hgvsc: ENST00000522603.1:c.-49dupT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000373856
  ensembl transcript: ENST00000389204
  gene symbol: ASPH
  hgvsc: ENST00000389204.4:c.-49dupT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000437864
  ensembl transcript: ENST00000541428
  gene symbol: ASPH
  hgvsc: ENST00000541428.1:c.-49dupT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000428060
  ensembl transcript: ENST00000517661
  gene symbol: ASPH
  hgvsc: ENST00000517661.1:c.-49dupT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000430245
  ensembl transcript: ENST00000517903
  gene symbol: ASPH
  hgvsc: ENST00000517903.1:c.-49dupT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368762
  ensembl transcript: ENST00000379449
  gene symbol: ASPH
  hgvsc: ENST00000379449.6:c.104-5549dupT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429160
  ensembl transcript: ENST00000522835
  gene symbol: ASPH
  hgvsc: ENST00000522835.1:c.-49dupT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429286
  ensembl transcript: ENST00000518068
  gene symbol: ASPH
  hgvsc: ENST00000518068.1:c.104-5549dupT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429743
  ensembl transcript: ENST00000517856
  gene symbol: ASPH
  hgvsc: ENST00000517856.1:c.104-5549dupT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368767
  ensembl transcript: ENST00000379454
  gene symbol: ASPH
  hgvsc: ENST00000379454.4:c.104-5549dupT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427823
  ensembl transcript: ENST00000519234
  gene symbol: ASPH
  hgvsc: ENST00000519234.1:c.104-5549dupT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427877
  ensembl transcript: ENST00000518306
  gene symbol: ASPH
  hgvsc: ENST00000518306.1:c.-49dupT
  variant of: http://identifiers.org/hgnc/757
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10667
  bin: 2.5e0
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 2.75e1
  variant carriers: 420
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 10593
  bin: 1.25e1
  variant carriers: 309
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 3.25e1
  variant carriers: 260
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 2.25e1
  variant carriers: 447
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/8-62602295-C-CAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62602295
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62602297
    reference: chr 8
allele count: 10
allele frequency: 5.602240896358543e-4
allele num: 17850
alternate allele: CAA
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429160
  ensembl transcript: ENST00000522835
  gene symbol: ASPH
  hgvsc: ENST00000522835.1:c.-50_-49dupTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427823
  ensembl transcript: ENST00000519234
  gene symbol: ASPH
  hgvsc: ENST00000519234.1:c.104-5550_104-5549dupTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429286
  ensembl transcript: ENST00000518068
  gene symbol: ASPH
  hgvsc: ENST00000518068.1:c.104-5550_104-5549dupTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000436188
  ensembl transcript: ENST00000522603
  gene symbol: ASPH
  hgvsc: ENST00000522603.1:c.-50_-49dupTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429718
  ensembl transcript: ENST00000522349
  gene symbol: ASPH
  hgvsc: ENST00000522349.1:c.-50_-49dupTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429743
  ensembl transcript: ENST00000517856
  gene symbol: ASPH
  hgvsc: ENST00000517856.1:c.104-5550_104-5549dupTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427877
  ensembl transcript: ENST00000518306
  gene symbol: ASPH
  hgvsc: ENST00000518306.1:c.-50_-49dupTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000428060
  ensembl transcript: ENST00000517661
  gene symbol: ASPH
  hgvsc: ENST00000517661.1:c.-50_-49dupTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000348841
  ensembl transcript: ENST00000356457
  gene symbol: ASPH
  hgvsc: ENST00000356457.5:c.104-5550_104-5549dupTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000373856
  ensembl transcript: ENST00000389204
  gene symbol: ASPH
  hgvsc: ENST00000389204.4:c.-50_-49dupTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000394013
  ensembl transcript: ENST00000445642
  gene symbol: ASPH
  hgvsc: ENST00000445642.3:c.-50_-49dupTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429954
  ensembl transcript: ENST00000517847
  gene symbol: ASPH
  hgvsc: ENST00000517847.2:c.-50_-49dupTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000437864
  ensembl transcript: ENST00000541428
  gene symbol: ASPH
  hgvsc: ENST00000541428.1:c.-50_-49dupTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000430245
  ensembl transcript: ENST00000517903
  gene symbol: ASPH
  hgvsc: ENST00000517903.1:c.-50_-49dupTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368767
  ensembl transcript: ENST00000379454
  gene symbol: ASPH
  hgvsc: ENST00000379454.4:c.104-5550_104-5549dupTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368762
  ensembl transcript: ENST00000379449
  gene symbol: ASPH
  hgvsc: ENST00000379449.6:c.104-5550_104-5549dupTT
  variant of: http://identifiers.org/hgnc/757
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22500
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/8-62602295-C-CAAAAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62602295
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62602300
    reference: chr 8
allele count: 3
allele frequency: 1.680672268907563e-4
allele num: 17850
alternate allele: CAAAAA
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427877
  ensembl transcript: ENST00000518306
  gene symbol: ASPH
  hgvsc: ENST00000518306.1:c.-53_-49dupTTTTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000348841
  ensembl transcript: ENST00000356457
  gene symbol: ASPH
  hgvsc: ENST00000356457.5:c.104-5553_104-5549dupTTTTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368762
  ensembl transcript: ENST00000379449
  gene symbol: ASPH
  hgvsc: ENST00000379449.6:c.104-5553_104-5549dupTTTTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000430245
  ensembl transcript: ENST00000517903
  gene symbol: ASPH
  hgvsc: ENST00000517903.1:c.-53_-49dupTTTTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429160
  ensembl transcript: ENST00000522835
  gene symbol: ASPH
  hgvsc: ENST00000522835.1:c.-53_-49dupTTTTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429954
  ensembl transcript: ENST00000517847
  gene symbol: ASPH
  hgvsc: ENST00000517847.2:c.-53_-49dupTTTTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000373856
  ensembl transcript: ENST00000389204
  gene symbol: ASPH
  hgvsc: ENST00000389204.4:c.-53_-49dupTTTTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429286
  ensembl transcript: ENST00000518068
  gene symbol: ASPH
  hgvsc: ENST00000518068.1:c.104-5553_104-5549dupTTTTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429718
  ensembl transcript: ENST00000522349
  gene symbol: ASPH
  hgvsc: ENST00000522349.1:c.-53_-49dupTTTTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000436188
  ensembl transcript: ENST00000522603
  gene symbol: ASPH
  hgvsc: ENST00000522603.1:c.-53_-49dupTTTTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368767
  ensembl transcript: ENST00000379454
  gene symbol: ASPH
  hgvsc: ENST00000379454.4:c.104-5553_104-5549dupTTTTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000394013
  ensembl transcript: ENST00000445642
  gene symbol: ASPH
  hgvsc: ENST00000445642.3:c.-53_-49dupTTTTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000437864
  ensembl transcript: ENST00000541428
  gene symbol: ASPH
  hgvsc: ENST00000541428.1:c.-53_-49dupTTTTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427823
  ensembl transcript: ENST00000519234
  gene symbol: ASPH
  hgvsc: ENST00000519234.1:c.104-5553_104-5549dupTTTTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429743
  ensembl transcript: ENST00000517856
  gene symbol: ASPH
  hgvsc: ENST00000517856.1:c.104-5553_104-5549dupTTTTT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000428060
  ensembl transcript: ENST00000517661
  gene symbol: ASPH
  hgvsc: ENST00000517661.1:c.-53_-49dupTTTTT
  variant of: http://identifiers.org/hgnc/757
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10593
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

http://identifiers.org/exac.variant/8-62602295-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62602295
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62602294
    reference: chr 8
allele count: 1385
allele frequency: 7.759103641456583e-2
allele num: 17850
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368767
  ensembl transcript: ENST00000379454
  gene symbol: ASPH
  hgvsc: ENST00000379454.4:c.104-5549delT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000373856
  ensembl transcript: ENST00000389204
  gene symbol: ASPH
  hgvsc: ENST00000389204.4:c.-49delT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429160
  ensembl transcript: ENST00000522835
  gene symbol: ASPH
  hgvsc: ENST00000522835.1:c.-49delT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429954
  ensembl transcript: ENST00000517847
  gene symbol: ASPH
  hgvsc: ENST00000517847.2:c.-49delT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000437864
  ensembl transcript: ENST00000541428
  gene symbol: ASPH
  hgvsc: ENST00000541428.1:c.-49delT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000436188
  ensembl transcript: ENST00000522603
  gene symbol: ASPH
  hgvsc: ENST00000522603.1:c.-49delT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000348841
  ensembl transcript: ENST00000356457
  gene symbol: ASPH
  hgvsc: ENST00000356457.5:c.104-5549delT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000394013
  ensembl transcript: ENST00000445642
  gene symbol: ASPH
  hgvsc: ENST00000445642.3:c.-49delT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427877
  ensembl transcript: ENST00000518306
  gene symbol: ASPH
  hgvsc: ENST00000518306.1:c.-49delT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427823
  ensembl transcript: ENST00000519234
  gene symbol: ASPH
  hgvsc: ENST00000519234.1:c.104-5549delT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368762
  ensembl transcript: ENST00000379449
  gene symbol: ASPH
  hgvsc: ENST00000379449.6:c.104-5549delT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000430245
  ensembl transcript: ENST00000517903
  gene symbol: ASPH
  hgvsc: ENST00000517903.1:c.-49delT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429286
  ensembl transcript: ENST00000518068
  gene symbol: ASPH
  hgvsc: ENST00000518068.1:c.104-5549delT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429743
  ensembl transcript: ENST00000517856
  gene symbol: ASPH
  hgvsc: ENST00000517856.1:c.104-5549delT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429718
  ensembl transcript: ENST00000522349
  gene symbol: ASPH
  hgvsc: ENST00000522349.1:c.-49delT
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000428060
  ensembl transcript: ENST00000517661
  gene symbol: ASPH
  hgvsc: ENST00000517661.1:c.-49delT
  variant of: http://identifiers.org/hgnc/757
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 10593
  bin: 1.25e1
  variant carriers: 171
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 1.75e1
  variant carriers: 159
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 9.75e1
  variant carriers: 270
genotype depth: GenotypeDepth
  all individuals: 22500
  bin: 7.5e0
  variant carriers: 117
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 2.75e1
  variant carriers: 252
genotype depth: GenotypeDepth
  all individuals: 10667
  bin: 2.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 3.75e1
  variant carriers: 72
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
reference allele: CA
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/8-62602296-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62602296
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62602296
    reference: chr 8
allele count: 1
allele frequency: 5.702554744525547e-5
allele num: 17536
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000373856
  ensembl transcript: ENST00000389204
  gene symbol: ASPH
  hgvsc: ENST00000389204.4:c.-49T>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429286
  ensembl transcript: ENST00000518068
  gene symbol: ASPH
  hgvsc: ENST00000518068.1:c.104-5549T>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000430245
  ensembl transcript: ENST00000517903
  gene symbol: ASPH
  hgvsc: ENST00000517903.1:c.-49T>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429160
  ensembl transcript: ENST00000522835
  gene symbol: ASPH
  hgvsc: ENST00000522835.1:c.-49T>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000348841
  ensembl transcript: ENST00000356457
  gene symbol: ASPH
  hgvsc: ENST00000356457.5:c.104-5549T>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000428060
  ensembl transcript: ENST00000517661
  gene symbol: ASPH
  hgvsc: ENST00000517661.1:c.-49T>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427877
  ensembl transcript: ENST00000518306
  gene symbol: ASPH
  hgvsc: ENST00000518306.1:c.-49T>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000394013
  ensembl transcript: ENST00000445642
  gene symbol: ASPH
  hgvsc: ENST00000445642.3:c.-49T>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000436188
  ensembl transcript: ENST00000522603
  gene symbol: ASPH
  hgvsc: ENST00000522603.1:c.-49T>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429718
  ensembl transcript: ENST00000522349
  gene symbol: ASPH
  hgvsc: ENST00000522349.1:c.-49T>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368767
  ensembl transcript: ENST00000379454
  gene symbol: ASPH
  hgvsc: ENST00000379454.4:c.104-5549T>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429954
  ensembl transcript: ENST00000517847
  gene symbol: ASPH
  hgvsc: ENST00000517847.2:c.-49T>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368762
  ensembl transcript: ENST00000379449
  gene symbol: ASPH
  hgvsc: ENST00000379449.6:c.104-5549T>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000437864
  ensembl transcript: ENST00000541428
  gene symbol: ASPH
  hgvsc: ENST00000541428.1:c.-49T>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427823
  ensembl transcript: ENST00000519234
  gene symbol: ASPH
  hgvsc: ENST00000519234.1:c.104-5549T>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429743
  ensembl transcript: ENST00000517856
  gene symbol: ASPH
  hgvsc: ENST00000517856.1:c.104-5549T>G
  variant of: http://identifiers.org/hgnc/757
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/8-62602299-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62602299
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62602300
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 48716
alternate allele: AC
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429718
  ensembl transcript: ENST00000522349
  gene symbol: ASPH
  hgvsc: ENST00000522349.1:c.-53_-52insG
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368767
  ensembl transcript: ENST00000379454
  gene symbol: ASPH
  hgvsc: ENST00000379454.4:c.104-5553_104-5552insG
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427877
  ensembl transcript: ENST00000518306
  gene symbol: ASPH
  hgvsc: ENST00000518306.1:c.-53_-52insG
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000394013
  ensembl transcript: ENST00000445642
  gene symbol: ASPH
  hgvsc: ENST00000445642.3:c.-53_-52insG
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000436188
  ensembl transcript: ENST00000522603
  gene symbol: ASPH
  hgvsc: ENST00000522603.1:c.-53_-52insG
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000373856
  ensembl transcript: ENST00000389204
  gene symbol: ASPH
  hgvsc: ENST00000389204.4:c.-53_-52insG
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429954
  ensembl transcript: ENST00000517847
  gene symbol: ASPH
  hgvsc: ENST00000517847.2:c.-53_-52insG
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000430245
  ensembl transcript: ENST00000517903
  gene symbol: ASPH
  hgvsc: ENST00000517903.1:c.-53_-52insG
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368762
  ensembl transcript: ENST00000379449
  gene symbol: ASPH
  hgvsc: ENST00000379449.6:c.104-5553_104-5552insG
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000428060
  ensembl transcript: ENST00000517661
  gene symbol: ASPH
  hgvsc: ENST00000517661.1:c.-53_-52insG
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000437864
  ensembl transcript: ENST00000541428
  gene symbol: ASPH
  hgvsc: ENST00000541428.1:c.-53_-52insG
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429743
  ensembl transcript: ENST00000517856
  gene symbol: ASPH
  hgvsc: ENST00000517856.1:c.104-5553_104-5552insG
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429286
  ensembl transcript: ENST00000518068
  gene symbol: ASPH
  hgvsc: ENST00000518068.1:c.104-5553_104-5552insG
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429160
  ensembl transcript: ENST00000522835
  gene symbol: ASPH
  hgvsc: ENST00000522835.1:c.-53_-52insG
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427823
  ensembl transcript: ENST00000519234
  gene symbol: ASPH
  hgvsc: ENST00000519234.1:c.104-5553_104-5552insG
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000348841
  ensembl transcript: ENST00000356457
  gene symbol: ASPH
  hgvsc: ENST00000356457.5:c.104-5553_104-5552insG
  variant of: http://identifiers.org/hgnc/757
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3385
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22854
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum

8-62626795-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62626795
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62626795
    reference: chr 8
allele count: 1
allele frequency: 1.856665428889714e-4
allele num: 5386
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368767
  ensembl transcript: ENST00000379454
  gene symbol: ASPH
  hgvsc: ENST00000379454.4:c.103+33C>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000348841
  ensembl transcript: ENST00000356457
  gene symbol: ASPH
  hgvsc: ENST00000356457.5:c.103+33C>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429286
  ensembl transcript: ENST00000518068
  gene symbol: ASPH
  hgvsc: ENST00000518068.1:c.103+33C>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368762
  ensembl transcript: ENST00000379449
  gene symbol: ASPH
  hgvsc: ENST00000379449.6:c.103+33C>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429743
  ensembl transcript: ENST00000517856
  gene symbol: ASPH
  hgvsc: ENST00000517856.1:c.103+33C>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427823
  ensembl transcript: ENST00000519234
  gene symbol: ASPH
  hgvsc: ENST00000519234.1:c.103+33C>T
  variant of: http://identifiers.org/hgnc/757
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8792
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30088
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3062
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum

8-62626797-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62626797
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62626797
    reference: chr 8
allele count: 1
allele frequency: 1.841620626151013e-4
allele num: 5430
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429743
  ensembl transcript: ENST00000517856
  gene symbol: ASPH
  hgvsc: ENST00000517856.1:c.103+31G>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368767
  ensembl transcript: ENST00000379454
  gene symbol: ASPH
  hgvsc: ENST00000379454.4:c.103+31G>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000348841
  ensembl transcript: ENST00000356457
  gene symbol: ASPH
  hgvsc: ENST00000356457.5:c.103+31G>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429286
  ensembl transcript: ENST00000518068
  gene symbol: ASPH
  hgvsc: ENST00000518068.1:c.103+31G>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368762
  ensembl transcript: ENST00000379449
  gene symbol: ASPH
  hgvsc: ENST00000379449.6:c.103+31G>C
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427823
  ensembl transcript: ENST00000519234
  gene symbol: ASPH
  hgvsc: ENST00000519234.1:c.103+31G>C
  variant of: http://identifiers.org/hgnc/757
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32851
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3897
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6086
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD

8-62626814-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62626814
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62626814
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 7942
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429286
  ensembl transcript: ENST00000518068
  gene symbol: ASPH
  hgvsc: ENST00000518068.1:c.103+14C>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368762
  ensembl transcript: ENST00000379449
  gene symbol: ASPH
  hgvsc: ENST00000379449.6:c.103+14C>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427823
  ensembl transcript: ENST00000519234
  gene symbol: ASPH
  hgvsc: ENST00000519234.1:c.103+14C>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429743
  ensembl transcript: ENST00000517856
  gene symbol: ASPH
  hgvsc: ENST00000517856.1:c.103+14C>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000348841
  ensembl transcript: ENST00000356457
  gene symbol: ASPH
  hgvsc: ENST00000356457.5:c.103+14C>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368767
  ensembl transcript: ENST00000379454
  gene symbol: ASPH
  hgvsc: ENST00000379454.4:c.103+14C>T
  variant of: http://identifiers.org/hgnc/757
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6773
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33104
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5529
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30845
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2489
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

8-62626849-TGCTGCCCGCACTCGTGCTACC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62626849
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62626828
    reference: chr 8
allele count: 1
allele frequency: 8.241305422778968e-5
allele num: 12134
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427823
  ensembl transcript: ENST00000519234
  gene symbol: ASPH
  hgvsp: ENSP00000427823.1:p.Gly21_Ser27del
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000348841
  ensembl transcript: ENST00000356457
  gene symbol: ASPH
  hgvsp: ENSP00000348841.5:p.Gly21_Ser27del
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368767
  ensembl transcript: ENST00000379454
  gene symbol: ASPH
  hgvsp: ENSP00000368767.4:p.Gly21_Ser27del
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429286
  ensembl transcript: ENST00000518068
  gene symbol: ASPH
  hgvsp: ENSP00000429286.1:p.Gly21_Ser27del
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429743
  ensembl transcript: ENST00000517856
  gene symbol: ASPH
  hgvsp: ENSP00000429743.1:p.Gly21_Ser27del
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368762
  ensembl transcript: ENST00000379449
  gene symbol: ASPH
  hgvsp: ENSP00000368762.5:p.Gly21_Ser27del
  variant of: http://identifiers.org/hgnc/757
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4092
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2209
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3453
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4577
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly21_Ser27del
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: TGCTGCCCGCACTCGTGCTACC
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

8-62626852-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62626852
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62626852
    reference: chr 8
allele count: 4
allele frequency: 3.24517280545189e-4
allele num: 12326
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368762
  ensembl transcript: ENST00000379449
  gene symbol: ASPH
  hgvsc: ENST00000379449.6:c.79A>C
  hgvsp: ENSP00000368762.5:p.Ser27Arg
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429286
  ensembl transcript: ENST00000518068
  gene symbol: ASPH
  hgvsc: ENST00000518068.1:c.79A>C
  hgvsp: ENSP00000429286.1:p.Ser27Arg
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368767
  ensembl transcript: ENST00000379454
  gene symbol: ASPH
  hgvsc: ENST00000379454.4:c.79A>C
  hgvsp: ENSP00000368767.4:p.Ser27Arg
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427823
  ensembl transcript: ENST00000519234
  gene symbol: ASPH
  hgvsc: ENST00000519234.1:c.79A>C
  hgvsp: ENSP00000427823.1:p.Ser27Arg
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429743
  ensembl transcript: ENST00000517856
  gene symbol: ASPH
  hgvsc: ENST00000517856.1:c.79A>C
  hgvsp: ENSP00000429743.1:p.Ser27Arg
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000348841
  ensembl transcript: ENST00000356457
  gene symbol: ASPH
  hgvsc: ENST00000356457.5:c.79A>C
  hgvsp: ENSP00000348841.5:p.Ser27Arg
  variant of: http://identifiers.org/hgnc/757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27730
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25715
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4668
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3392
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser27Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP

8-62626853-G-GCCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62626853
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62626856
    reference: chr 8
allele count: 1
allele frequency: 8.087997411840829e-5
allele num: 12364
alternate allele: GCCC
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368762
  ensembl transcript: ENST00000379449
  gene symbol: ASPH
  hgvsc: ENST00000379449.6:c.75_77dupGGG
  hgvsp: ENSP00000368762.5:p.Gly26dup
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368767
  ensembl transcript: ENST00000379454
  gene symbol: ASPH
  hgvsc: ENST00000379454.4:c.75_77dupGGG
  hgvsp: ENSP00000368767.4:p.Gly26dup
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429743
  ensembl transcript: ENST00000517856
  gene symbol: ASPH
  hgvsc: ENST00000517856.1:c.75_77dupGGG
  hgvsp: ENSP00000429743.1:p.Gly26dup
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429286
  ensembl transcript: ENST00000518068
  gene symbol: ASPH
  hgvsc: ENST00000518068.1:c.75_77dupGGG
  hgvsp: ENSP00000429286.1:p.Gly26dup
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000348841
  ensembl transcript: ENST00000356457
  gene symbol: ASPH
  hgvsc: ENST00000356457.5:c.75_77dupGGG
  hgvsp: ENSP00000348841.5:p.Gly26dup
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427823
  ensembl transcript: ENST00000519234
  gene symbol: ASPH
  hgvsc: ENST00000519234.1:c.75_77dupGGG
  hgvsp: ENSP00000427823.1:p.Gly26dup
  variant of: http://identifiers.org/hgnc/757
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27095
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3809
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3239
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4617
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly26dup
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/8-62626862-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62626862
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62626862
    reference: chr 8
allele count: 28
allele frequency: 2.172563625077591e-3
allele num: 12888
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429286
  ensembl transcript: ENST00000518068
  gene symbol: ASPH
  hgvsc: ENST00000518068.1:c.69G>T
  hgvsp: ENST00000518068.1:c.69G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368767
  ensembl transcript: ENST00000379454
  gene symbol: ASPH
  hgvsc: ENST00000379454.4:c.69G>T
  hgvsp: ENST00000379454.4:c.69G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427823
  ensembl transcript: ENST00000519234
  gene symbol: ASPH
  hgvsc: ENST00000519234.1:c.69G>T
  hgvsp: ENST00000519234.1:c.69G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429743
  ensembl transcript: ENST00000517856
  gene symbol: ASPH
  hgvsc: ENST00000517856.1:c.69G>T
  hgvsp: ENST00000517856.1:c.69G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368762
  ensembl transcript: ENST00000379449
  gene symbol: ASPH
  hgvsc: ENST00000379449.6:c.69G>T
  hgvsp: ENST00000379449.6:c.69G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000348841
  ensembl transcript: ENST00000356457
  gene symbol: ASPH
  hgvsc: ENST00000356457.5:c.69G>T
  hgvsp: ENST00000356457.5:c.69G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/757
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24879
  bin: 2.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 7.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2841
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2748
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 22355
  bin: 7.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.25e1
  variant carriers: 1
hgvs: p.Thr23Thr
num of homozygotes: 3
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD

8-62626879-A-AGCCGCTGCTGCTGCTGTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62626879
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62626897
    reference: chr 8
allele count: 9
allele frequency: 6.605019815059445e-4
allele num: 13626
alternate allele: AGCCGCTGCTGCTGCTGTT
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368767
  ensembl transcript: ENST00000379454
  gene symbol: ASPH
  hgvsp: ENSP00000368767.4:p.Asn12_Gly17dup
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429286
  ensembl transcript: ENST00000518068
  gene symbol: ASPH
  hgvsp: ENSP00000429286.1:p.Asn12_Gly17dup
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368762
  ensembl transcript: ENST00000379449
  gene symbol: ASPH
  hgvsp: ENSP00000368762.5:p.Asn12_Gly17dup
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000348841
  ensembl transcript: ENST00000356457
  gene symbol: ASPH
  hgvsp: ENSP00000348841.5:p.Asn12_Gly17dup
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429743
  ensembl transcript: ENST00000517856
  gene symbol: ASPH
  hgvsp: ENSP00000429743.1:p.Asn12_Gly17dup
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427823
  ensembl transcript: ENST00000519234
  gene symbol: ASPH
  hgvsp: ENSP00000427823.1:p.Asn12_Gly17dup
  variant of: http://identifiers.org/hgnc/757
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20777
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4550
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4954
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2536
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18876
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn12_Gly17dup
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/8-62626884-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62626884
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62626884
    reference: chr 8
allele count: 1
allele frequency: 7.37354372511429e-5
allele num: 13562
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429743
  ensembl transcript: ENST00000517856
  gene symbol: ASPH
  hgvsc: ENST00000517856.1:c.47G>T
  hgvsp: ENSP00000429743.1:p.Ser16Ile
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368762
  ensembl transcript: ENST00000379449
  gene symbol: ASPH
  hgvsc: ENST00000379449.6:c.47G>T
  hgvsp: ENSP00000368762.5:p.Ser16Ile
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429286
  ensembl transcript: ENST00000518068
  gene symbol: ASPH
  hgvsc: ENST00000518068.1:c.47G>T
  hgvsp: ENSP00000429286.1:p.Ser16Ile
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000348841
  ensembl transcript: ENST00000356457
  gene symbol: ASPH
  hgvsc: ENST00000356457.5:c.47G>T
  hgvsp: ENSP00000348841.5:p.Ser16Ile
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368767
  ensembl transcript: ENST00000379454
  gene symbol: ASPH
  hgvsc: ENST00000379454.4:c.47G>T
  hgvsp: ENSP00000368767.4:p.Ser16Ile
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427823
  ensembl transcript: ENST00000519234
  gene symbol: ASPH
  hgvsc: ENST00000519234.1:c.47G>T
  hgvsp: ENSP00000427823.1:p.Ser16Ile
  variant of: http://identifiers.org/hgnc/757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18936
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2594
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16816
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser16Ile
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS

8-62626885-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62626885
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62626885
    reference: chr 8
allele count: 1
allele frequency: 7.352941176470588e-5
allele num: 13600
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429743
  ensembl transcript: ENST00000517856
  gene symbol: ASPH
  hgvsc: ENST00000517856.1:c.46A>C
  hgvsp: ENSP00000429743.1:p.Ser16Arg
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368767
  ensembl transcript: ENST00000379454
  gene symbol: ASPH
  hgvsc: ENST00000379454.4:c.46A>C
  hgvsp: ENSP00000368767.4:p.Ser16Arg
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000348841
  ensembl transcript: ENST00000356457
  gene symbol: ASPH
  hgvsc: ENST00000356457.5:c.46A>C
  hgvsp: ENSP00000348841.5:p.Ser16Arg
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427823
  ensembl transcript: ENST00000519234
  gene symbol: ASPH
  hgvsc: ENST00000519234.1:c.46A>C
  hgvsp: ENSP00000427823.1:p.Ser16Arg
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429286
  ensembl transcript: ENST00000518068
  gene symbol: ASPH
  hgvsc: ENST00000518068.1:c.46A>C
  hgvsp: ENSP00000429286.1:p.Ser16Arg
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368762
  ensembl transcript: ENST00000379449
  gene symbol: ASPH
  hgvsc: ENST00000379449.6:c.46A>C
  hgvsp: ENSP00000368762.5:p.Ser16Arg
  variant of: http://identifiers.org/hgnc/757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4333
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19040
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2249
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4682
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17081
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser16Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

8-62626895-G-GTTGCCGCTGCTC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62626895
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62626907
    reference: chr 8
allele count: 1
allele frequency: 7.228567297961544e-5
allele num: 13834
alternate allele: GTTGCCGCTGCTC
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000348841
  ensembl transcript: ENST00000356457
  gene symbol: ASPH
  hgvsp: ENSP00000348841.5:p.Lys8_Gly11dup
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429286
  ensembl transcript: ENST00000518068
  gene symbol: ASPH
  hgvsp: ENSP00000429286.1:p.Lys8_Gly11dup
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368762
  ensembl transcript: ENST00000379449
  gene symbol: ASPH
  hgvsp: ENSP00000368762.5:p.Lys8_Gly11dup
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368767
  ensembl transcript: ENST00000379454
  gene symbol: ASPH
  hgvsp: ENSP00000368767.4:p.Lys8_Gly11dup
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429743
  ensembl transcript: ENST00000517856
  gene symbol: ASPH
  hgvsp: ENSP00000429743.1:p.Lys8_Gly11dup
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427823
  ensembl transcript: ENST00000519234
  gene symbol: ASPH
  hgvsp: ENSP00000427823.1:p.Lys8_Gly11dup
  variant of: http://identifiers.org/hgnc/757
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2651
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4780
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1905
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15447
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys8_Gly11dup
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

8-62626905-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62626905
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62626905
    reference: chr 8
allele count: 1
allele frequency: 7.247427163357009e-5
allele num: 13798
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429286
  ensembl transcript: ENST00000518068
  gene symbol: ASPH
  hgvsc: ENST00000518068.1:c.26G>A
  hgvsp: ENSP00000429286.1:p.Ser9Asn
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427823
  ensembl transcript: ENST00000519234
  gene symbol: ASPH
  hgvsc: ENST00000519234.1:c.26G>A
  hgvsp: ENSP00000427823.1:p.Ser9Asn
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368762
  ensembl transcript: ENST00000379449
  gene symbol: ASPH
  hgvsc: ENST00000379449.6:c.26G>A
  hgvsp: ENSP00000368762.5:p.Ser9Asn
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368767
  ensembl transcript: ENST00000379454
  gene symbol: ASPH
  hgvsc: ENST00000379454.4:c.26G>A
  hgvsp: ENSP00000368767.4:p.Ser9Asn
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429743
  ensembl transcript: ENST00000517856
  gene symbol: ASPH
  hgvsc: ENST00000517856.1:c.26G>A
  hgvsp: ENSP00000429743.1:p.Ser9Asn
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000348841
  ensembl transcript: ENST00000356457
  gene symbol: ASPH
  hgvsc: ENST00000356457.5:c.26G>A
  hgvsp: ENSP00000348841.5:p.Ser9Asn
  variant of: http://identifiers.org/hgnc/757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15436
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1506
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4551
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13985
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser9Asn
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

8-62626905-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62626905
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62626905
    reference: chr 8
allele count: 1
allele frequency: 7.247427163357009e-5
allele num: 13798
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429286
  ensembl transcript: ENST00000518068
  gene symbol: ASPH
  hgvsc: ENST00000518068.1:c.26G>C
  hgvsp: ENSP00000429286.1:p.Ser9Thr
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429743
  ensembl transcript: ENST00000517856
  gene symbol: ASPH
  hgvsc: ENST00000517856.1:c.26G>C
  hgvsp: ENSP00000429743.1:p.Ser9Thr
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368762
  ensembl transcript: ENST00000379449
  gene symbol: ASPH
  hgvsc: ENST00000379449.6:c.26G>C
  hgvsp: ENSP00000368762.5:p.Ser9Thr
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427823
  ensembl transcript: ENST00000519234
  gene symbol: ASPH
  hgvsc: ENST00000519234.1:c.26G>C
  hgvsp: ENSP00000427823.1:p.Ser9Thr
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368767
  ensembl transcript: ENST00000379454
  gene symbol: ASPH
  hgvsc: ENST00000379454.4:c.26G>C
  hgvsp: ENSP00000368767.4:p.Ser9Thr
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000348841
  ensembl transcript: ENST00000356457
  gene symbol: ASPH
  hgvsc: ENST00000356457.5:c.26G>C
  hgvsp: ENSP00000348841.5:p.Ser9Thr
  variant of: http://identifiers.org/hgnc/757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15436
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4551
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2935
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1506
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13985
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser9Thr
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

8-62626930-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62626930
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62626930
    reference: chr 8
allele count: 1
allele frequency: 7.718431614695894e-5
allele num: 12956
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000348841
  ensembl transcript: ENST00000356457
  gene symbol: ASPH
  hgvsc: ENST00000356457.5:c.1A>G
  hgvsp: ENSP00000348841.5:p.Met1?
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368762
  ensembl transcript: ENST00000379449
  gene symbol: ASPH
  hgvsc: ENST00000379449.6:c.1A>G
  hgvsp: ENSP00000368762.5:p.Met1?
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429286
  ensembl transcript: ENST00000518068
  gene symbol: ASPH
  hgvsc: ENST00000518068.1:c.1A>G
  hgvsp: ENSP00000429286.1:p.Met1?
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368767
  ensembl transcript: ENST00000379454
  gene symbol: ASPH
  hgvsc: ENST00000379454.4:c.1A>G
  hgvsp: ENSP00000368767.4:p.Met1?
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427823
  ensembl transcript: ENST00000519234
  gene symbol: ASPH
  hgvsc: ENST00000519234.1:c.1A>G
  hgvsp: ENSP00000427823.1:p.Met1?
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429743
  ensembl transcript: ENST00000517856
  gene symbol: ASPH
  hgvsc: ENST00000517856.1:c.1A>G
  hgvsp: ENSP00000429743.1:p.Met1?
  variant of: http://identifiers.org/hgnc/757
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10563
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3882
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2374
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

8-62626942-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62626942
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62626941
    reference: chr 8
allele count: 5
allele frequency: 4.153513872736335e-4
allele num: 12038
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429743
  ensembl transcript: ENST00000517856
  gene symbol: ASPH
  hgvsc: ENST00000517856.1:c.-13delC
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368762
  ensembl transcript: ENST00000379449
  gene symbol: ASPH
  hgvsc: ENST00000379449.6:c.-13delC
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368767
  ensembl transcript: ENST00000379454
  gene symbol: ASPH
  hgvsc: ENST00000379454.4:c.-13delC
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429286
  ensembl transcript: ENST00000518068
  gene symbol: ASPH
  hgvsc: ENST00000518068.1:c.-13delC
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427823
  ensembl transcript: ENST00000519234
  gene symbol: ASPH
  hgvsc: ENST00000519234.1:c.-13delC
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000348841
  ensembl transcript: ENST00000356457
  gene symbol: ASPH
  hgvsc: ENST00000356457.5:c.-13delC
  variant of: http://identifiers.org/hgnc/757
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8490
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3132
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7860
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3791
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1371
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: CG
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

8-62626946-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62626946
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62626946
    reference: chr 8
allele count: 2
allele frequency: 1.841281531946234e-4
allele num: 10862
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429743
  ensembl transcript: ENST00000517856
  gene symbol: ASPH
  hgvsc: ENST00000517856.1:c.-16C>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427823
  ensembl transcript: ENST00000519234
  gene symbol: ASPH
  hgvsc: ENST00000519234.1:c.-16C>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368762
  ensembl transcript: ENST00000379449
  gene symbol: ASPH
  hgvsc: ENST00000379449.6:c.-16C>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368767
  ensembl transcript: ENST00000379454
  gene symbol: ASPH
  hgvsc: ENST00000379454.4:c.-16C>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429286
  ensembl transcript: ENST00000518068
  gene symbol: ASPH
  hgvsc: ENST00000518068.1:c.-16C>T
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000348841
  ensembl transcript: ENST00000356457
  gene symbol: ASPH
  hgvsc: ENST00000356457.5:c.-16C>T
  variant of: http://identifiers.org/hgnc/757
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6692
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6085
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

8-62626962-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62626962
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62626962
    reference: chr 8
allele count: 8411
allele frequency: 7.934905660377358e-1
allele num: 10600
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427823
  ensembl transcript: ENST00000519234
  gene symbol: ASPH
  hgvsc: ENST00000519234.1:c.-32G>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000348841
  ensembl transcript: ENST00000356457
  gene symbol: ASPH
  hgvsc: ENST00000356457.5:c.-32G>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368762
  ensembl transcript: ENST00000379449
  gene symbol: ASPH
  hgvsc: ENST00000379449.6:c.-32G>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429286
  ensembl transcript: ENST00000518068
  gene symbol: ASPH
  hgvsc: ENST00000518068.1:c.-32G>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368767
  ensembl transcript: ENST00000379454
  gene symbol: ASPH
  hgvsc: ENST00000379454.4:c.-32G>A
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429743
  ensembl transcript: ENST00000517856
  gene symbol: ASPH
  hgvsc: ENST00000517856.1:c.-32G>A
  variant of: http://identifiers.org/hgnc/757
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 1.25e1
  variant carriers: 2653
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 7.5e0
  variant carriers: 3010
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 2.25e1
  variant carriers: 491
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 1.75e1
  variant carriers: 1201
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 3.75e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 2.5e0
  variant carriers: 1450
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.75e1
  variant carriers: 231
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 3.25e1
  variant carriers: 119
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.25e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1973
  bin: 9.75e1
  variant carriers: 1970
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 3.75e1
  variant carriers: 729
genotype quality: GenotypeQuality
  all individuals: 1424
  bin: 2.5e0
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 9.25e1
  variant carriers: 117
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 7.25e1
  variant carriers: 133
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 1.25e1
  variant carriers: 525
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 4.25e1
  variant carriers: 352
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 1.75e1
  variant carriers: 940
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 7.75e1
  variant carriers: 187
genotype quality: GenotypeQuality
  all individuals: 1784
  bin: 7.5e0
  variant carriers: 902
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.75e1
  variant carriers: 175
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 2.75e1
  variant carriers: 470
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 3.25e1
  variant carriers: 785
num of homozygotes: 3309
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

8-62626976-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62626976
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62626976
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 5680
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000427823
  ensembl transcript: ENST00000519234
  gene symbol: ASPH
  hgvsc: ENST00000519234.1:c.-46A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000348841
  ensembl transcript: ENST00000356457
  gene symbol: ASPH
  hgvsc: ENST00000356457.5:c.-46A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429286
  ensembl transcript: ENST00000518068
  gene symbol: ASPH
  hgvsc: ENST00000518068.1:c.-46A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368767
  ensembl transcript: ENST00000379454
  gene symbol: ASPH
  hgvsc: ENST00000379454.4:c.-46A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000429743
  ensembl transcript: ENST00000517856
  gene symbol: ASPH
  hgvsc: ENST00000517856.1:c.-46A>G
  variant of: http://identifiers.org/hgnc/757
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198363
  ensembl protein: ENSP00000368762
  ensembl transcript: ENST00000379449
  gene symbol: ASPH
  hgvsc: ENST00000379449.6:c.-46A>G
  variant of: http://identifiers.org/hgnc/757
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7459
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4258
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5378
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2427
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

8-62627317-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62627317
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62627317
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 4
alternate allele: C
canonical: true
consequence: upstream gene
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1525
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

8-62627383-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62627383
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62627383
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 2
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000264408
  ensembl transcript: ENST00000583453
  gene symbol: MIR4470
  hgvsc: ENST00000583453.1:n.37T>G
  variant of: http://identifiers.org/hgnc/41833
canonical: true
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1497
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/8-62627417-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62627417
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62627417
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 6
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000264408
  ensembl transcript: ENST00000583453
  gene symbol: MIR4470
  hgvsc: ENST00000583453.1:n.71C>A
  variant of: http://identifiers.org/hgnc/41833
canonical: true
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

8-62627456-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62627456
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 62627456
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 4
alternate allele: G
canonical: true
consequence: upstream gene
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

8-63161598-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63161598
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 63161598
    reference: chr 8
allele count: 1
allele frequency: 8.265829062654984e-5
allele num: 12098
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000429073
  ensembl transcript: ENST00000523211
  gene symbol: NKAIN3
  hgvsc: ENST00000523211.1:c.-35C>G
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185942
  ensembl transcript: ENST00000519049
  gene symbol: NKAIN3
  hgvsc: ENST00000519049.1:n.355C>G
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000429393
  ensembl transcript: ENST00000524201
  gene symbol: NKAIN3
  hgvsc: ENST00000524201.1:c.-35C>G
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185942
  ensembl transcript: ENST00000523367
  gene symbol: NKAIN3
  hgvsc: ENST00000523367.1:n.371C>G
  variant of: http://identifiers.org/hgnc/26829
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12975
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1601
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 300
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 176
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  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

8-63161606-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63161606
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 63161606
    reference: chr 8
allele count: 3
allele frequency: 2.470355731225296e-4
allele num: 12144
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185942
  ensembl transcript: ENST00000523367
  gene symbol: NKAIN3
  hgvsc: ENST00000523367.1:n.379C>G
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185942
  ensembl transcript: ENST00000519049
  gene symbol: NKAIN3
  hgvsc: ENST00000519049.1:n.363C>G
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000429073
  ensembl transcript: ENST00000523211
  gene symbol: NKAIN3
  hgvsc: ENST00000523211.1:c.-27C>G
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000429393
  ensembl transcript: ENST00000524201
  gene symbol: NKAIN3
  hgvsc: ENST00000524201.1:c.-27C>G
  variant of: http://identifiers.org/hgnc/26829
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12652
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
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genotype depth: GenotypeDepth
  all individuals: 136
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1387
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genotype quality: GenotypeQuality
  all individuals: 357
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num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

8-63161607-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63161607
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 63161607
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 12160
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185942
  ensembl transcript: ENST00000519049
  gene symbol: NKAIN3
  hgvsc: ENST00000519049.1:n.364A>T
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185942
  ensembl transcript: ENST00000523367
  gene symbol: NKAIN3
  hgvsc: ENST00000523367.1:n.380A>T
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000429073
  ensembl transcript: ENST00000523211
  gene symbol: NKAIN3
  hgvsc: ENST00000523211.1:c.-26A>T
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000429393
  ensembl transcript: ENST00000524201
  gene symbol: NKAIN3
  hgvsc: ENST00000524201.1:c.-26A>T
  variant of: http://identifiers.org/hgnc/26829
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 562
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  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

8-63161612-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63161612
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 63161612
    reference: chr 8
allele count: 4675
allele frequency: 3.695652173913043e-1
allele num: 12650
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185942
  ensembl transcript: ENST00000523367
  gene symbol: NKAIN3
  hgvsc: ENST00000523367.1:n.385C>G
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185942
  ensembl transcript: ENST00000519049
  gene symbol: NKAIN3
  hgvsc: ENST00000519049.1:n.369C>G
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000429393
  ensembl transcript: ENST00000524201
  gene symbol: NKAIN3
  hgvsc: ENST00000524201.1:c.-21C>G
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000429073
  ensembl transcript: ENST00000523211
  gene symbol: NKAIN3
  hgvsc: ENST00000523211.1:c.-21C>G
  variant of: http://identifiers.org/hgnc/26829
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 2.75e1
  variant carriers: 376
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 7.5e0
  variant carriers: 724
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.25e1
  variant carriers: 482
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 135
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 2.25e1
  variant carriers: 255
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.75e1
  variant carriers: 360
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.75e1
  variant carriers: 188
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 1.25e1
  variant carriers: 350
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 281
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 3.25e1
  variant carriers: 449
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10601
  bin: 2.5e0
  variant carriers: 763
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.75e1
  variant carriers: 237
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 3.75e1
  variant carriers: 508
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.75e1
  variant carriers: 118
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 2.25e1
  variant carriers: 121
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 7.25e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 8.25e1
  variant carriers: 99
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 1.25e1
  variant carriers: 196
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 49
genotype quality: GenotypeQuality
  all individuals: 6972
  bin: 7.5e0
  variant carriers: 454
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 3559
  bin: 2.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 7.75e1
  variant carriers: 75
genotype quality: GenotypeQuality
  all individuals: 3477
  bin: 9.75e1
  variant carriers: 3447
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 1.75e1
  variant carriers: 164
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 3.25e1
  variant carriers: 65
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 6.75e1
  variant carriers: 56
genotype quality: GenotypeQuality
  all individuals: 1597
  bin: 6.25e1
  variant carriers: 67
num of homozygotes: 873
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP

8-63161627-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63161627
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 63161627
    reference: chr 8
allele count: 1
allele frequency: 7.939028262940616e-5
allele num: 12596
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185942
  ensembl transcript: ENST00000519049
  gene symbol: NKAIN3
  hgvsc: ENST00000519049.1:n.384G>A
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000429073
  ensembl transcript: ENST00000523211
  gene symbol: NKAIN3
  hgvsc: ENST00000523211.1:c.-6G>A
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000429393
  ensembl transcript: ENST00000524201
  gene symbol: NKAIN3
  hgvsc: ENST00000524201.1:c.-6G>A
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185942
  ensembl transcript: ENST00000523367
  gene symbol: NKAIN3
  hgvsc: ENST00000523367.1:n.400G>A
  variant of: http://identifiers.org/hgnc/26829
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14987
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13350
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3886
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

8-63161660-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63161660
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 63161660
    reference: chr 8
allele count: 1
allele frequency: 7.692307692307693e-5
allele num: 13000
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185942
  ensembl transcript: ENST00000519049
  gene symbol: NKAIN3
  hgvsc: ENST00000519049.1:n.417C>T
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000429073
  ensembl transcript: ENST00000523211
  gene symbol: NKAIN3
  hgvsc: ENST00000523211.1:c.28C>T
  hgvsp: ENSP00000429073.1:p.Leu10Phe
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000333627
  ensembl transcript: ENST00000328472
  gene symbol: NKAIN3
  hgvsc: ENST00000328472.5:c.28C>T
  hgvsp: ENSP00000333627.5:p.Leu10Phe
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185942
  ensembl transcript: ENST00000523367
  gene symbol: NKAIN3
  hgvsc: ENST00000523367.1:n.433C>T
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000429393
  ensembl transcript: ENST00000524201
  gene symbol: NKAIN3
  hgvsc: ENST00000524201.1:c.28C>T
  hgvsp: ENSP00000429393.1:p.Leu10Phe
  variant of: http://identifiers.org/hgnc/26829
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17030
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4237
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15224
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1805
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2061
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu10Phe
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP

8-63161664-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63161664
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 63161664
    reference: chr 8
allele count: 1
allele frequency: 7.659313725490196e-5
allele num: 13056
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000333627
  ensembl transcript: ENST00000328472
  gene symbol: NKAIN3
  hgvsc: ENST00000328472.5:c.32T>A
  hgvsp: ENSP00000333627.5:p.Ile11Asn
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000429393
  ensembl transcript: ENST00000524201
  gene symbol: NKAIN3
  hgvsc: ENST00000524201.1:c.32T>A
  hgvsp: ENSP00000429393.1:p.Ile11Asn
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185942
  ensembl transcript: ENST00000523367
  gene symbol: NKAIN3
  hgvsc: ENST00000523367.1:n.437T>A
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185942
  ensembl transcript: ENST00000519049
  gene symbol: NKAIN3
  hgvsc: ENST00000519049.1:n.421T>A
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000429073
  ensembl transcript: ENST00000523211
  gene symbol: NKAIN3
  hgvsc: ENST00000523211.1:c.32T>A
  hgvsp: ENSP00000429073.1:p.Ile11Asn
  variant of: http://identifiers.org/hgnc/26829
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17237
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15545
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1700
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4266
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2138
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile11Asn
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

8-63161684-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63161684
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 63161684
    reference: chr 8
allele count: 22
allele frequency: 1.680929095354523e-3
allele num: 13088
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000333627
  ensembl transcript: ENST00000328472
  gene symbol: NKAIN3
  hgvsc: ENST00000328472.5:c.52T>C
  hgvsp: ENST00000328472.5:c.52T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000429393
  ensembl transcript: ENST00000524201
  gene symbol: NKAIN3
  hgvsc: ENST00000524201.1:c.52T>C
  hgvsp: ENST00000524201.1:c.52T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185942
  ensembl transcript: ENST00000523367
  gene symbol: NKAIN3
  hgvsc: ENST00000523367.1:n.457T>C
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000429073
  ensembl transcript: ENST00000523211
  gene symbol: NKAIN3
  hgvsc: ENST00000523211.1:c.52T>C
  hgvsp: ENST00000523211.1:c.52T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185942
  ensembl transcript: ENST00000519049
  gene symbol: NKAIN3
  hgvsc: ENST00000519049.1:n.441T>C
  variant of: http://identifiers.org/hgnc/26829
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16938
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2857
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 15406
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
hgvs: c.52T>C
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ

8-63161695-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63161695
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 63161695
    reference: chr 8
allele count: 2
allele frequency: 1.552795031055901e-4
allele num: 12880
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000429073
  ensembl transcript: ENST00000523211
  gene symbol: NKAIN3
  hgvsc: ENST00000523211.1:c.54+9C>G
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000333627
  ensembl transcript: ENST00000328472
  gene symbol: NKAIN3
  hgvsc: ENST00000328472.5:c.54+9C>G
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000429393
  ensembl transcript: ENST00000524201
  gene symbol: NKAIN3
  hgvsc: ENST00000524201.1:c.54+9C>G
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl transcript: ENST00000519049
  gene symbol: NKAIN3
  hgvsc: ENST00000519049.1:n.443+9C>G
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl transcript: ENST00000523367
  gene symbol: NKAIN3
  hgvsc: ENST00000523367.1:n.459+9C>G
  variant of: http://identifiers.org/hgnc/26829
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16084
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2462
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2159
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2490
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13975
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

8-63161704-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63161704
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 63161704
    reference: chr 8
allele count: 1
allele frequency: 7.845598619174644e-5
allele num: 12746
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl transcript: ENST00000519049
  gene symbol: NKAIN3
  hgvsc: ENST00000519049.1:n.443+18C>T
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000429393
  ensembl transcript: ENST00000524201
  gene symbol: NKAIN3
  hgvsc: ENST00000524201.1:c.54+18C>T
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000429073
  ensembl transcript: ENST00000523211
  gene symbol: NKAIN3
  hgvsc: ENST00000523211.1:c.54+18C>T
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl transcript: ENST00000523367
  gene symbol: NKAIN3
  hgvsc: ENST00000523367.1:n.459+18C>T
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000333627
  ensembl transcript: ENST00000328472
  gene symbol: NKAIN3
  hgvsc: ENST00000328472.5:c.54+18C>T
  variant of: http://identifiers.org/hgnc/26829
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16040
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2397
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13741
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2745
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2352
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/8-63161704-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63161704
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 63161704
    reference: chr 8
allele count: 1
allele frequency: 7.845598619174644e-5
allele num: 12746
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000333627
  ensembl transcript: ENST00000328472
  gene symbol: NKAIN3
  hgvsc: ENST00000328472.5:c.54+18C>A
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000429393
  ensembl transcript: ENST00000524201
  gene symbol: NKAIN3
  hgvsc: ENST00000524201.1:c.54+18C>A
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl transcript: ENST00000523367
  gene symbol: NKAIN3
  hgvsc: ENST00000523367.1:n.459+18C>A
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000429073
  ensembl transcript: ENST00000523211
  gene symbol: NKAIN3
  hgvsc: ENST00000523211.1:c.54+18C>A
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl transcript: ENST00000519049
  gene symbol: NKAIN3
  hgvsc: ENST00000519049.1:n.443+18C>A
  variant of: http://identifiers.org/hgnc/26829
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16040
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2397
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13741
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2352
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3153
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

8-63161714-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63161714
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 63161714
    reference: chr 8
allele count: 4
allele frequency: 3.160556257901391e-4
allele num: 12656
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl transcript: ENST00000519049
  gene symbol: NKAIN3
  hgvsc: ENST00000519049.1:n.443+28G>A
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl transcript: ENST00000523367
  gene symbol: NKAIN3
  hgvsc: ENST00000523367.1:n.459+28G>A
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000333627
  ensembl transcript: ENST00000328472
  gene symbol: NKAIN3
  hgvsc: ENST00000328472.5:c.54+28G>A
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000429073
  ensembl transcript: ENST00000523211
  gene symbol: NKAIN3
  hgvsc: ENST00000523211.1:c.54+28G>A
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000429393
  ensembl transcript: ENST00000524201
  gene symbol: NKAIN3
  hgvsc: ENST00000524201.1:c.54+28G>A
  variant of: http://identifiers.org/hgnc/26829
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15579
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2950
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2953
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2462
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12660
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD

8-63161718-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63161718
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 63161719
    reference: chr 8
allele count: 1
allele frequency: 7.951653944020357e-5
allele num: 12576
alternate allele: AG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000333627
  ensembl transcript: ENST00000328472
  gene symbol: NKAIN3
  hgvsc: ENST00000328472.5:c.54+34dupG
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl transcript: ENST00000523367
  gene symbol: NKAIN3
  hgvsc: ENST00000523367.1:n.459+34dupG
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl transcript: ENST00000519049
  gene symbol: NKAIN3
  hgvsc: ENST00000519049.1:n.443+34dupG
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000429073
  ensembl transcript: ENST00000523211
  gene symbol: NKAIN3
  hgvsc: ENST00000523211.1:c.54+34dupG
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000429393
  ensembl transcript: ENST00000524201
  gene symbol: NKAIN3
  hgvsc: ENST00000524201.1:c.54+34dupG
  variant of: http://identifiers.org/hgnc/26829
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15327
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3539
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11851
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2836
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

8-63161727-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63161727
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 63161727
    reference: chr 8
allele count: 4
allele frequency: 3.283533081595797e-4
allele num: 12182
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000333627
  ensembl transcript: ENST00000328472
  gene symbol: NKAIN3
  hgvsc: ENST00000328472.5:c.54+41C>T
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000429393
  ensembl transcript: ENST00000524201
  gene symbol: NKAIN3
  hgvsc: ENST00000524201.1:c.54+41C>T
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl transcript: ENST00000523367
  gene symbol: NKAIN3
  hgvsc: ENST00000523367.1:n.459+41C>T
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000429073
  ensembl transcript: ENST00000523211
  gene symbol: NKAIN3
  hgvsc: ENST00000523211.1:c.54+41C>T
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl transcript: ENST00000519049
  gene symbol: NKAIN3
  hgvsc: ENST00000519049.1:n.443+41C>T
  variant of: http://identifiers.org/hgnc/26829
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2462
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15012
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2560
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10011
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5158
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 2.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD

8-63161729-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63161729
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 63161729
    reference: chr 8
allele count: 1
allele frequency: 8.304268393954493e-5
allele num: 12042
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000333627
  ensembl transcript: ENST00000328472
  gene symbol: NKAIN3
  hgvsc: ENST00000328472.5:c.54+43C>G
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000429393
  ensembl transcript: ENST00000524201
  gene symbol: NKAIN3
  hgvsc: ENST00000524201.1:c.54+43C>G
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl transcript: ENST00000523367
  gene symbol: NKAIN3
  hgvsc: ENST00000523367.1:n.459+43C>G
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000429073
  ensembl transcript: ENST00000523211
  gene symbol: NKAIN3
  hgvsc: ENST00000523211.1:c.54+43C>G
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl transcript: ENST00000519049
  gene symbol: NKAIN3
  hgvsc: ENST00000519049.1:n.443+43C>G
  variant of: http://identifiers.org/hgnc/26829
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14929
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2366
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9205
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5874
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

8-63161734-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63161734
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 63161734
    reference: chr 8
allele count: 1
allele frequency: 8.373806732540613e-5
allele num: 11942
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000429073
  ensembl transcript: ENST00000523211
  gene symbol: NKAIN3
  hgvsc: ENST00000523211.1:c.54+48A>T
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl transcript: ENST00000523367
  gene symbol: NKAIN3
  hgvsc: ENST00000523367.1:n.459+48A>T
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000333627
  ensembl transcript: ENST00000328472
  gene symbol: NKAIN3
  hgvsc: ENST00000328472.5:c.54+48A>T
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000429393
  ensembl transcript: ENST00000524201
  gene symbol: NKAIN3
  hgvsc: ENST00000524201.1:c.54+48A>T
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl transcript: ENST00000519049
  gene symbol: NKAIN3
  hgvsc: ENST00000519049.1:n.443+48A>T
  variant of: http://identifiers.org/hgnc/26829
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14995
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2218
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6523
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8650
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

8-63161737-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63161737
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 63161737
    reference: chr 8
allele count: 5
allele frequency: 4.259669449650707e-4
allele num: 11738
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000429073
  ensembl transcript: ENST00000523211
  gene symbol: NKAIN3
  hgvsc: ENST00000523211.1:c.54+51G>C
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000429393
  ensembl transcript: ENST00000524201
  gene symbol: NKAIN3
  hgvsc: ENST00000524201.1:c.54+51G>C
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl transcript: ENST00000519049
  gene symbol: NKAIN3
  hgvsc: ENST00000519049.1:n.443+51G>C
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000333627
  ensembl transcript: ENST00000328472
  gene symbol: NKAIN3
  hgvsc: ENST00000328472.5:c.54+51G>C
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl transcript: ENST00000523367
  gene symbol: NKAIN3
  hgvsc: ENST00000523367.1:n.459+51G>C
  variant of: http://identifiers.org/hgnc/26829
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2642
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15093
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2060
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7086
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8173
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD

8-63257377-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63257377
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 63257378
    reference: chr 8
allele count: 1
allele frequency: 1.033912324234905e-4
allele num: 9672
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000333627
  ensembl transcript: ENST00000328472
  gene symbol: NKAIN3
  hgvsc: ENST00000328472.5:c.54+95698dupT
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl transcript: ENST00000523367
  gene symbol: NKAIN3
  hgvsc: ENST00000523367.1:n.459+95698dupT
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000429073
  ensembl transcript: ENST00000523211
  gene symbol: NKAIN3
  hgvsc: ENST00000523211.1:c.54+95698dupT
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl protein: ENSP00000429393
  ensembl transcript: ENST00000524201
  gene symbol: NKAIN3
  hgvsc: ENST00000524201.1:c.54+95698dupT
  variant of: http://identifiers.org/hgnc/26829
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185942
  ensembl transcript: ENST00000519049
  gene symbol: NKAIN3
  hgvsc: ENST00000519049.1:n.443+95698dupT
  variant of: http://identifiers.org/hgnc/26829
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
reference allele: A

GenotypeDepth
all individuals: 246
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 369
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 390
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2023
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 675
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8112
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1284
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4164
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1118
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 464
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 160
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 212
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 208
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 269
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4268
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1027
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 786
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5445
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 828
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3558
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6791
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2650
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1025
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3460
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2434
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7088
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5197
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6091
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 669
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1476
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2096
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5072
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7960
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10808
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.620955715489853e-5
allele num: 61692
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12878
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

QD
type: SiteQuality
SIO_000300: 1.445e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-1

FS
type: SiteQuality
SIO_000300: 4.667e0

VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.098e0

DP
type: SiteQuality
SIO_000300: 1.54207e6

MQ
type: SiteQuality
SIO_000300: 5.944e1

MQRankSum
type: SiteQuality
SIO_000300: 6.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-1

GenotypeDepth
all individuals: 219
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 300
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 146
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2323
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 757
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4736
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 5820
bin: 2.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 19716
bin: 7.5e0
variant carriers: 16

GenotypeDepth
all individuals: 198
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 134
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6493
bin: 1.75e1
variant carriers: 4

GenotypeDepth
all individuals: 146
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1235
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3867
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 308
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2601
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3066
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 596
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1476
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2565
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2889
bin: 9.75e1
variant carriers: 26

GenotypeQuality
all individuals: 8111
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1810
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2869
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2615
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1719
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2262
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 840
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 20980
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1000
bin: 7.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 1.502403846153846e-4
allele num: 6656
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 596
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5528
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 4.748338081671415e-4
allele num: 4212
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 5.47645125958379e-4
allele num: 34694
num of homozygotes: 0

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

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

African
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
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SIO_000300: 6.25e-1

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

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

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

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

European (Non-Finnish)
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South Asian
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African
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Other
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BaseQRankSum
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SIO_000300: -7.05e-1

MQ
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QD
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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FS
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DP
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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African
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European (Non-Finnish)
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European (Finnish)
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Latino
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South Asian
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FS
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QD
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MQRankSum
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InbreedingCoeff
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DP
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MQ
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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East Asian
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European (Non-Finnish)
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Latino
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African
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Other
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MQ
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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QD
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DP
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GenotypeQuality
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European (Non-Finnish)
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Other
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African
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South Asian
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Latino
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East Asian
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European (Finnish)
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FS
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VQSLOD
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DP
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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SIO_000300: 1.25e0

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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BaseQRankSum
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SIO_000300: -8.44e-1

GenotypeDepth
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variant carriers: 0

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

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

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

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

South Asian
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Other
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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 frequency: 4.180602006688963e-5
allele num: 23920
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.39769e5

MQ
type: SiteQuality
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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QD
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FS
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MQRankSum
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SIO_000300: -7.5e-2

BaseQRankSum
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SIO_000300: 1.18e-1

ReadPosRankSum
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2954
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 3.116651825467498e-4
allele num: 22460
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele frequency: 4.32152117545376e-4
allele num: 4628
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.228e0

ReadPosRankSum
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SIO_000300: -7.12e-1

DP
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InbreedingCoeff
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QD
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BaseQRankSum
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SIO_000300: -1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

MQRankSum
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SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.81e-1

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 22460
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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South Asian
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East Asian
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MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
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BaseQRankSum
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SIO_000300: -1.09e0

MQ
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InbreedingCoeff
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FS
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DP
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VQSLOD
type: SiteQuality
SIO_000300: -2.81e-1

QD
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ReadPosRankSum
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SIO_000300: -7.12e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2954
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 4812
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

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

South Asian
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ReadPosRankSum
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DP
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VQSLOD
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BaseQRankSum
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MQ
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FS
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MQRankSum
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InbreedingCoeff
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QD
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ClippingRankSum
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GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 5.221932114882506e-4
allele num: 3830
num of homozygotes: 0

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

Other
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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European (Finnish)
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South Asian
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FS
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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DP
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MQRankSum
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QD
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InbreedingCoeff
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 1
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allele num: 8284
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 1
allele frequency: 2.610966057441253e-4
allele num: 3830
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European (Non-Finnish)
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allele num: 18348
num of homozygotes: 0

East Asian
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allele num: 2510
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Latino
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Other
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DP
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SIO_000300: 9.38889e5

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

European (Non-Finnish)
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Latino
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African
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European (Finnish)
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Other
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num of homozygotes: 0

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

African
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allele frequency: 7.83289817232376e-4
allele num: 3830
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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DP
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SIO_000300: 9.38889e5

MQRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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MQ
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FS
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QD
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BaseQRankSum
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SIO_000300: -1.783e0

ReadPosRankSum
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SIO_000300: 3.2e-1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 21030
num of homozygotes: 0

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

Latino
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East Asian
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South Asian
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allele num: 10366
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African
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ClippingRankSum
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SIO_000300: 3.75e-1

MQ
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BaseQRankSum
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MQRankSum
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VQSLOD
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DP
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ReadPosRankSum
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FS
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SIO_000300: 3.988e0

QD
type: SiteQuality
SIO_000300: 5.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-2

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

African
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allele count: 3
allele frequency: 1.420454545454545e-3
allele num: 2112
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South Asian
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allele count: 3
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allele num: 3562
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MQ
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ClippingRankSum
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QD
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FS
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ReadPosRankSum
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MQRankSum
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VQSLOD
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DP
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InbreedingCoeff
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele num: 178
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European (Finnish)
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East Asian
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African
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European (Non-Finnish)
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allele frequency: 7.149311045854981e-2
allele num: 8854
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South Asian
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Latino
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ReadPosRankSum
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FS
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InbreedingCoeff
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MQRankSum
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MQ
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DP
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

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

African
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allele frequency: 0.0e0
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Latino
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South Asian
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Other
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East Asian
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allele count: 0
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European (Non-Finnish)
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allele num: 8854
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InbreedingCoeff
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MQRankSum
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VQSLOD
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FS
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DP
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QD
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MQ
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 253
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3869
bin: 1.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 9.881422924901185e-4
allele num: 1012
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.25886604924328e-4
allele num: 8854
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2112
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 960
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1172
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3562
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

FS
type: SiteQuality
SIO_000300: 9.89e-1

DP
type: SiteQuality
SIO_000300: 8.54268e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.87e-1

QD
type: SiteQuality
SIO_000300: 2.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.585e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.95e0

GenotypeDepth
all individuals: 212
bin: 6.25e1
variant carriers: 34

GenotypeDepth
all individuals: 1566
bin: 3.25e1
variant carriers: 136

GenotypeDepth
all individuals: 302
bin: 5.25e1
variant carriers: 38

GenotypeDepth
all individuals: 177
bin: 8.25e1
variant carriers: 48

GenotypeDepth
all individuals: 188
bin: 7.25e1
variant carriers: 36

GenotypeDepth
all individuals: 141
bin: 8.75e1
variant carriers: 42

GenotypeDepth
all individuals: 2249
bin: 2.25e1
variant carriers: 229

GenotypeDepth
all individuals: 279
bin: 5.75e1
variant carriers: 39

GenotypeDepth
all individuals: 139
bin: 9.25e1
variant carriers: 32

GenotypeDepth
all individuals: 407
bin: 4.75e1
variant carriers: 27

GenotypeQuality
all individuals: 3677
bin: 2.25e1
variant carriers: 96

GenotypeQuality
all individuals: 8725
bin: 7.5e0
variant carriers: 114

GenotypeQuality
all individuals: 1491
bin: 9.75e1
variant carriers: 634

GenotypeQuality
all individuals: 901
bin: 3.25e1
variant carriers: 76

GenotypeQuality
all individuals: 295
bin: 6.75e1
variant carriers: 30

GenotypeQuality
all individuals: 3869
bin: 1.25e1
variant carriers: 80

GenotypeQuality
all individuals: 1199
bin: 2.75e1
variant carriers: 83

GenotypeQuality
all individuals: 3348
bin: 1.75e1
variant carriers: 80

GenotypeQuality
all individuals: 448
bin: 6.25e1
variant carriers: 76

GenotypeQuality
all individuals: 201
bin: 8.25e1
variant carriers: 22

GenotypeQuality
all individuals: 138
bin: 8.75e1
variant carriers: 14

GenotypeQuality
all individuals: 701
bin: 3.75e1
variant carriers: 82

GenotypeQuality
all individuals: 476
bin: 4.75e1
variant carriers: 91

GenotypeQuality
all individuals: 569
bin: 4.25e1
variant carriers: 81

GenotypeQuality
all individuals: 128
bin: 9.25e1
variant carriers: 12

GenotypeQuality
all individuals: 30692
bin: 2.5e0
variant carriers: 71

GenotypeQuality
all individuals: 253
bin: 7.25e1
variant carriers: 23

GenotypeQuality
all individuals: 405
bin: 5.25e1
variant carriers: 75

GenotypeQuality
all individuals: 375
bin: 5.75e1
variant carriers: 85

GenotypeQuality
all individuals: 205
bin: 7.75e1
variant carriers: 21

Latino
type: Population
allele count: 56
allele frequency: 4.778156996587031e-2
allele num: 1172
num of homozygotes: 0

South Asian
type: Population
allele count: 326
allele frequency: 9.152161706906232e-2
allele num: 3562
num of homozygotes: 0

East Asian
type: Population
allele count: 62
allele frequency: 6.126482213438735e-2
allele num: 1012
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 16
allele frequency: 1.666666666666667e-2
allele num: 960
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 832
allele frequency: 9.396882764852044e-2
allele num: 8854
num of homozygotes: 0

Other
type: Population
allele count: 14
allele frequency: 7.865168539325842e-2
allele num: 178
num of homozygotes: 0

African
type: Population
allele count: 79
allele frequency: 3.740530303030303e-2
allele num: 2112
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.87e-1

DP
type: SiteQuality
SIO_000300: 8.54268e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.06e-1

QD
type: SiteQuality
SIO_000300: 2.16e0

FS
type: SiteQuality
SIO_000300: 9.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.585e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.95e0

GenotypeDepth
all individuals: 1624
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10986
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 338
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 729
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 99
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variant carriers: 0

GenotypeDepth
all individuals: 139
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variant carriers: 0

GenotypeDepth
all individuals: 65
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variant carriers: 0

GenotypeDepth
all individuals: 3450
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 208
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 129
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variant carriers: 0

GenotypeQuality
all individuals: 798
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24637
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variant carriers: 0

GenotypeQuality
all individuals: 4338
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5647
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
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variant carriers: 0

GenotypeQuality
all individuals: 1470
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1604
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variant carriers: 0

GenotypeQuality
all individuals: 410
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variant carriers: 0

GenotypeQuality
all individuals: 9520
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GenotypeQuality
all individuals: 4198
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2690
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1214
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1508
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 5.0e-4
allele num: 2000
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8300
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1668
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.316e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.26e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.366e0

DP
type: SiteQuality
SIO_000300: 7.09207e5

QD
type: SiteQuality
SIO_000300: 3.208e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.28e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.39e-1

GenotypeDepth
all individuals: 130
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11821
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 350
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10425
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 859
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variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 204
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 143
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variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 285
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 712
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10649
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GenotypeQuality
all individuals: 2305
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variant carriers: 0

GenotypeQuality
all individuals: 10407
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 780
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variant carriers: 0

GenotypeQuality
all individuals: 539
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GenotypeQuality
all individuals: 5691
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1615
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1424
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9391
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3419
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 984
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variant carriers: 0

GenotypeQuality
all individuals: 4106
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variant carriers: 0

GenotypeQuality
all individuals: 3335
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variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22144
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 432
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10624
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3098
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4552
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4890
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2976
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.84e0

MQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.17e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.067e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.764e1

DP
type: SiteQuality
SIO_000300: 9.05972e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.589e0

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

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

GenotypeQuality
all individuals: 7013
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 3.265839320705421e-4
allele num: 3062
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 316
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.318e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.1e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.037e0

DP
type: SiteQuality
SIO_000300: 1.83893e5

MQRankSum
type: SiteQuality
SIO_000300: 1.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.88e-1

QD
type: SiteQuality
SIO_000300: 1.296e1

FS
type: SiteQuality
SIO_000300: 2.004e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.45e-1

GenotypeQuality
all individuals: 29
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 248
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29010
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1145
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 9.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1536
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 3.166561114629512e-4
allele num: 3158
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 1.453e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.34e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.19e-1

DP
type: SiteQuality
SIO_000300: 1.81047e5

FS
type: SiteQuality
SIO_000300: 3.757e0

VQSLOD
type: SiteQuality
SIO_000300: -1.8e0

GenotypeQuality
all individuals: 33
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2545
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 8.25e1
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GenotypeQuality
all individuals: 30
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variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 80
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4846
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2226
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.25e-2

DP
type: SiteQuality
SIO_000300: 2.03043e5

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -5.129e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 5.76e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 3.25e1
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GenotypeQuality
all individuals: 26198
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GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 69
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variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.467997651203758e-4
allele num: 6812
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3740
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 914
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 322
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -3.742e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.94e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

DP
type: SiteQuality
SIO_000300: 2.22639e5

MQ
type: SiteQuality
SIO_000300: 5.552e1

VQSLOD
type: SiteQuality
SIO_000300: -8.231000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.786e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e-1

QD
type: SiteQuality
SIO_000300: 6.2e-1

GenotypeQuality
all individuals: 2185
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.25e1
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GenotypeQuality
all individuals: 80
bin: 5.25e1
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GenotypeQuality
all individuals: 74
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3812
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 332
num of homozygotes: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 5.817335660267597e-4
allele num: 6876
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 8.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.93e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.5e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.884e0

MQRankSum
type: SiteQuality
SIO_000300: -1.32e-1

QD
type: SiteQuality
SIO_000300: 6.23e0

DP
type: SiteQuality
SIO_000300: 2.22915e5

GenotypeQuality
all individuals: 2449
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24842
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 15
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 972
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3836
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 330
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.453488372093023e-4
allele num: 6880
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.88e1

DP
type: SiteQuality
SIO_000300: 2.21224e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.95e-2

MQRankSum
type: SiteQuality
SIO_000300: -8.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

FS
type: SiteQuality
SIO_000300: 1.574e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e-1

QD
type: SiteQuality
SIO_000300: 1.421e1

GenotypeQuality
all individuals: 18
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 81
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 23

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 5.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 4717
bin: 6.25e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 138
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.478560867422376e-3
allele num: 4058
num of homozygotes: 1

South Asian
type: Population
allele count: 22
allele frequency: 3.150057273768614e-3
allele num: 6984
num of homozygotes: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1094
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.47e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.33e1

DP
type: SiteQuality
SIO_000300: 2.19493e5

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.09e0

GenotypeQuality
all individuals: 2139
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 21
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1306
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 4.248088360237893e-4
allele num: 7062
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 424
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.35685210312076e-3
allele num: 4422
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

MQ
type: SiteQuality
SIO_000300: 4.979e1

VQSLOD
type: SiteQuality
SIO_000300: -7.348e-1

FS
type: SiteQuality
SIO_000300: 3.364e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

QD
type: SiteQuality
SIO_000300: 3.22e0

MQRankSum
type: SiteQuality
SIO_000300: -3.332e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.439999999999999e-2

DP
type: SiteQuality
SIO_000300: 2.14244e5

BaseQRankSum
type: SiteQuality
SIO_000300: 7.18e-1

GenotypeQuality
all individuals: 80
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2403
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48
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variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4645
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1322
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 436
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 142
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.265518803806072e-4
allele num: 4414
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6974
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.401e1

DP
type: SiteQuality
SIO_000300: 2.11065e5

VQSLOD
type: SiteQuality
SIO_000300: -2.275e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.155e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.389999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-3

FS
type: SiteQuality
SIO_000300: 2.807e0

GenotypeQuality
all individuals: 207
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2435
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
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GenotypeQuality
all individuals: 81
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variant carriers: 0

GenotypeQuality
all individuals: 117
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GenotypeQuality
all individuals: 48
bin: 8.25e1
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GenotypeQuality
all individuals: 489
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6970
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.253267237494367e-4
allele num: 4438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1340
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 142
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.628e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

DP
type: SiteQuality
SIO_000300: 2.11985e5

QD
type: SiteQuality
SIO_000300: 1.37e1

MQRankSum
type: SiteQuality
SIO_000300: 7.99e-1

FS
type: SiteQuality
SIO_000300: 1.749e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.389999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e0

GenotypeQuality
all individuals: 79
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 184
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GenotypeQuality
all individuals: 101
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variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.439263097294185e-4
allele num: 6948
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4592
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 446
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 276
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.468e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.08e-2

DP
type: SiteQuality
SIO_000300: 2.04239e5

MQ
type: SiteQuality
SIO_000300: 5.811e1

QD
type: SiteQuality
SIO_000300: 4.04e0

VQSLOD
type: SiteQuality
SIO_000300: 6.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.21e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 75
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 15
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
all individuals: 463
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6814
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4602
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 454
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 6.775067750677507e-4
allele num: 1476
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 148
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.317e0

FS
type: SiteQuality
SIO_000300: 6.406e0

DP
type: SiteQuality
SIO_000300: 1.96704e5

QD
type: SiteQuality
SIO_000300: 8.09e0

VQSLOD
type: SiteQuality
SIO_000300: -1.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.65e-1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.35e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.06e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 20
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GenotypeQuality
all individuals: 72
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GenotypeQuality
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GenotypeQuality
all individuals: 43
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GenotypeQuality
all individuals: 122
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GenotypeQuality
all individuals: 15
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1476
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: 454
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 26
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4602
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 148
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.06e-1

FS
type: SiteQuality
SIO_000300: 6.406e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.65e-1

DP
type: SiteQuality
SIO_000300: 1.96704e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.317e0

VQSLOD
type: SiteQuality
SIO_000300: -1.57e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.35e-2

MQRankSum
type: SiteQuality
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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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bin: 7.5e0
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 460
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 130
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 28
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4432
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1502
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.635055591890124e-4
allele num: 6116
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.85e-2

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

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.59884e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.74e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 110
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GenotypeQuality
all individuals: 39
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GenotypeQuality
all individuals: 32
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GenotypeQuality
all individuals: 60
bin: 7.25e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4204
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 3.467406380027739e-3
allele num: 1442
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 268
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 124
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East Asian
type: Population
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allele frequency: 0.0e0
allele num: 446
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.299e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.89e-1

FS
type: SiteQuality
SIO_000300: 1.798e0

DP
type: SiteQuality
SIO_000300: 1.42699e5

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.33e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.02e-1

GenotypeQuality
all individuals: 38
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3033
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 952
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 761
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.272727272727273e-3
allele num: 440
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1416
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 256
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.115059221658206e-4
allele num: 4728
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3874
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.74e-2

FS
type: SiteQuality
SIO_000300: 3.265e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.17e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.15e-1

DP
type: SiteQuality
SIO_000300: 1.31897e5

GenotypeQuality
all individuals: 157
bin: 8.25e1
variant carriers: 157

GenotypeQuality
all individuals: 442
bin: 4.75e1
variant carriers: 441

GenotypeQuality
all individuals: 95
bin: 8.75e1
variant carriers: 95

GenotypeQuality
all individuals: 323
bin: 5.25e1
variant carriers: 323

GenotypeQuality
all individuals: 1149
bin: 2.25e1
variant carriers: 919

GenotypeQuality
all individuals: 205
bin: 6.25e1
variant carriers: 176

GenotypeQuality
all individuals: 182
bin: 6.75e1
variant carriers: 179

European (Finnish)
type: Population
allele count: 20
allele frequency: 5.882352941176471e-1
allele num: 34
num of homozygotes: 4

East Asian
type: Population
allele count: 357
allele frequency: 8.076923076923077e-1
allele num: 442
num of homozygotes: 148

Other
type: Population
allele count: 85
allele frequency: 7.727272727272727e-1
allele num: 110
num of homozygotes: 31

South Asian
type: Population
allele count: 3234
allele frequency: 7.800289435600579e-1
allele num: 4146
num of homozygotes: 1252

African
type: Population
allele count: 1387
allele frequency: 8.778481012658228e-1
allele num: 1580
num of homozygotes: 603

Latino
type: Population
allele count: 201
allele frequency: 7.556390977443609e-1
allele num: 266
num of homozygotes: 74

European (Non-Finnish)
type: Population
allele count: 3127
allele frequency: 7.77473893585281e-1
allele num: 4022
num of homozygotes: 1197

VQSLOD
type: SiteQuality
SIO_000300: 3.48e0

QD
type: SiteQuality
SIO_000300: 2.67e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 6.39e-1

DP
type: SiteQuality
SIO_000300: 1.46475e5

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

GenotypeQuality
all individuals: 136
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 95
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2183
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1748
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 332
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 980
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2360
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.73e-1

FS
type: SiteQuality
SIO_000300: 2.269e0

VQSLOD
type: SiteQuality
SIO_000300: -4.111e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e0

QD
type: SiteQuality
SIO_000300: 1.353e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.78e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.01232e5

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

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

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

QD
type: SiteQuality
SIO_000300: 8.640000000000001e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

VQSLOD
type: SiteQuality
SIO_000300: -1.729e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

DP
type: SiteQuality
SIO_000300: 4.144e3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.49e-2

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.353e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.06e-1

DP
type: SiteQuality
SIO_000300: 3.764e3

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.859999999999999e-2

FS
type: SiteQuality
SIO_000300: 2.858e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.06e-1

QD
type: SiteQuality
SIO_000300: 1.643e1

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 7.5e-1

DP
type: SiteQuality
SIO_000300: 4.9e3

FS
type: SiteQuality
SIO_000300: 9.384e0

QD
type: SiteQuality
SIO_000300: 1.635e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.52e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.537e0

MQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.19e-1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 5.986e3

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.31e-2

FS
type: SiteQuality
SIO_000300: 9.795e0

MQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.019e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.2e-1

GenotypeQuality
all individuals: 215
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 1.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.173913043478261e-3
allele num: 460
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3726
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.13e-2

DP
type: SiteQuality
SIO_000300: 2.25674e5

VQSLOD
type: SiteQuality
SIO_000300: 4.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

FS
type: SiteQuality
SIO_000300: 2.187e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.42e-1

QD
type: SiteQuality
SIO_000300: 1.331e1

GenotypeQuality
all individuals: 289
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1891
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3744
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 4.022526146419951e-4
allele num: 7458
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.27593e5

FS
type: SiteQuality
SIO_000300: 6.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.45e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.152e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.46e-2

QD
type: SiteQuality
SIO_000300: 1.348e1

MQRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.04e-1

GenotypeQuality
all individuals: 162
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 151
bin: 3.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3754
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7462
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.43e-2

QD
type: SiteQuality
SIO_000300: 1.752e1

DP
type: SiteQuality
SIO_000300: 2.28325e5

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 5.861e1

VQSLOD
type: SiteQuality
SIO_000300: -1.618e0

GenotypeQuality
all individuals: 105
bin: 9.25e1
variant carriers: 95

GenotypeQuality
all individuals: 81
bin: 5.75e1
variant carriers: 65

GenotypeQuality
all individuals: 84
bin: 8.75e1
variant carriers: 68

Other
type: Population
allele count: 41
allele frequency: 3.106060606060606e-1
allele num: 132
num of homozygotes: 8

European (Non-Finnish)
type: Population
allele count: 1438
allele frequency: 3.509028794533919e-1
allele num: 4098
num of homozygotes: 222

Latino
type: Population
allele count: 62
allele frequency: 3.974358974358974e-1
allele num: 156
num of homozygotes: 13

East Asian
type: Population
allele count: 41
allele frequency: 1.830357142857143e-1
allele num: 224
num of homozygotes: 4

South Asian
type: Population
allele count: 3001
allele frequency: 3.988569909622541e-1
allele num: 7524
num of homozygotes: 616

African
type: Population
allele count: 89
allele frequency: 1.758893280632411e-1
allele num: 506
num of homozygotes: 10

European (Finnish)
type: Population
allele count: 3
allele frequency: 3.0e-1
allele num: 10
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.293e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.67e0

FS
type: SiteQuality
SIO_000300: 5.56e-1

QD
type: SiteQuality
SIO_000300: 1.669e1

DP
type: SiteQuality
SIO_000300: 2.48237e5

GenotypeQuality
all individuals: 112
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 544
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.496255616575137e-4
allele num: 4006
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.298e0

MQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.657e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.94e-2

QD
type: SiteQuality
SIO_000300: 7.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.51e-1

DP
type: SiteQuality
SIO_000300: 2.06587e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.333e0

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4256
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 7.462686567164179e-3
allele num: 134
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.928e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.665e0

QD
type: SiteQuality
SIO_000300: 1.221e1

FS
type: SiteQuality
SIO_000300: 1.402e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

DP
type: SiteQuality
SIO_000300: 2.1723e5

GenotypeQuality
all individuals: 794
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 268
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.330849081714134e-4
allele num: 7514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4294
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.028e0

MQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

MQ
type: SiteQuality
SIO_000300: 5.801e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.72e-1

QD
type: SiteQuality
SIO_000300: 6.6e0

DP
type: SiteQuality
SIO_000300: 2.18407e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.480000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e0

FS
type: SiteQuality
SIO_000300: 5.008e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.53e-1

GenotypeQuality
all individuals: 186
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4181
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 35
bin: 8.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2403
bin: 2.25e1
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GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.310536044362292e-4
allele num: 4328
num of homozygotes: 0

African
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allele count: 21
allele frequency: 3.0e-2
allele num: 700
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 282
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.16928e5

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

FS
type: SiteQuality
SIO_000300: 3.221e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.44e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.516e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.42e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

QD
type: SiteQuality
SIO_000300: 1.113e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4288
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 284
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.74649821477616e-4
allele num: 7282
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 692
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.625e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.21e1

VQSLOD
type: SiteQuality
SIO_000300: -3.453e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.81e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.68e0

DP
type: SiteQuality
SIO_000300: 2.04099e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.43e-2

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7146
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4240
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.366120218579235e-3
allele num: 732
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.79e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.86e-1

DP
type: SiteQuality
SIO_000300: 1.94977e5

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4240
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.399384270920795e-4
allele num: 7146
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.79e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.94977e5

MQRankSum
type: SiteQuality
SIO_000300: 4.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.93e-1

QD
type: SiteQuality
SIO_000300: 7.29e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 100
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variant carriers: 4

GenotypeQuality
all individuals: 18
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variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4228
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 294
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 5.676979846721544e-4
allele num: 7046
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.56e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.08e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.213e0

DP
type: SiteQuality
SIO_000300: 1.80081e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.72e-1

QD
type: SiteQuality
SIO_000300: 1.204e1

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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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4224
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6980
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.65e-2

MQRankSum
type: SiteQuality
SIO_000300: -8.070000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.49e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.360000000000001e-1

QD
type: SiteQuality
SIO_000300: 5.84e0

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e0

DP
type: SiteQuality
SIO_000300: 1.72702e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 320
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GenotypeQuality
all individuals: 1074
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 296
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4066
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6750
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 5.46448087431694e-3
allele num: 732
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.60576e5

MQRankSum
type: SiteQuality
SIO_000300: 3.95e-1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.14e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -8.8e-1

FS
type: SiteQuality
SIO_000300: 1.724e0

QD
type: SiteQuality
SIO_000300: 9.58e0

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.061e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 520
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GenotypeQuality
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 2.487562189054726e-4
allele num: 4020
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 14
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
allele num: 6668
num of homozygotes: 0

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.409999999999999e-2

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

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: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 298
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Latino
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allele frequency: 0.0e0
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South Asian
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allele num: 6608
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Other
type: Population
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 3982
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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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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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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num of homozygotes: 0

African
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allele frequency: 5.361930294906166e-3
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South Asian
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allele frequency: 1.548946716232962e-4
allele num: 6456
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 16
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East Asian
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allele frequency: 0.0e0
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Other
type: Population
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VQSLOD
type: SiteQuality
SIO_000300: -6.39e-1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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DP
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ClippingRankSum
type: SiteQuality
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FS
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
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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East Asian
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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
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South Asian
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allele frequency: 1.46756677428823e-4
allele num: 6814
num of homozygotes: 0