11-77830221-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77830221
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 77830221
    reference: chr 11
allele count: 2
allele frequency: 1.755371436595984e-5
allele num: 113936
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000437199
  ensembl transcript: ENST00000532050
  gene symbol: ALG8
  hgvsc: ENST00000532050.1:c.546+7A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000299626
  ensembl transcript: ENST00000299626
  gene symbol: ALG8
  hgvsc: ENST00000299626.5:c.546+7A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436064
  ensembl transcript: ENST00000527099
  gene symbol: ALG8
  hgvsc: ENST00000527099.1:c.282+7A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436366
  ensembl transcript: ENST00000526737
  gene symbol: ALG8
  hgvsc: ENST00000526737.1:c.*178+7A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435467
  ensembl transcript: ENST00000525755
  gene symbol: ALG8
  hgvsc: ENST00000525755.1:c.393+7A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435626
  ensembl transcript: ENST00000532306
  gene symbol: ALG8
  hgvsc: ENST00000532306.1:c.167+7A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435417
  ensembl transcript: ENST00000525870
  gene symbol: ALG8
  hgvsc: ENST00000525870.1:c.282+7A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000434660
  ensembl transcript: ENST00000530454
  gene symbol: ALG8
  hgvsc: ENST00000530454.1:c.549+7A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000432953
  ensembl transcript: ENST00000529139
  gene symbol: ALG8
  hgvsc: ENST00000529139.1:c.80+7A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000365326
  ensembl transcript: ENST00000376156
  gene symbol: ALG8
  hgvsc: ENST00000376156.3:c.546+7A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl transcript: ENST00000532552
  gene symbol: ALG8
  hgvsc: ENST00000532552.2:n.122-9594A>G
  variant of: http://identifiers.org/hgnc/23161
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3641
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6541
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.546+7A>G
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

11-77830221-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77830221
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 77830221
    reference: chr 11
allele count: 2
allele frequency: 1.755371436595984e-5
allele num: 113936
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000299626
  ensembl transcript: ENST00000299626
  gene symbol: ALG8
  hgvsc: ENST00000299626.5:c.546+7A>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000434660
  ensembl transcript: ENST00000530454
  gene symbol: ALG8
  hgvsc: ENST00000530454.1:c.549+7A>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436064
  ensembl transcript: ENST00000527099
  gene symbol: ALG8
  hgvsc: ENST00000527099.1:c.282+7A>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000437199
  ensembl transcript: ENST00000532050
  gene symbol: ALG8
  hgvsc: ENST00000532050.1:c.546+7A>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435417
  ensembl transcript: ENST00000525870
  gene symbol: ALG8
  hgvsc: ENST00000525870.1:c.282+7A>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl transcript: ENST00000532552
  gene symbol: ALG8
  hgvsc: ENST00000532552.2:n.122-9594A>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435626
  ensembl transcript: ENST00000532306
  gene symbol: ALG8
  hgvsc: ENST00000532306.1:c.167+7A>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000365326
  ensembl transcript: ENST00000376156
  gene symbol: ALG8
  hgvsc: ENST00000376156.3:c.546+7A>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436366
  ensembl transcript: ENST00000526737
  gene symbol: ALG8
  hgvsc: ENST00000526737.1:c.*178+7A>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435467
  ensembl transcript: ENST00000525755
  gene symbol: ALG8
  hgvsc: ENST00000525755.1:c.393+7A>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000432953
  ensembl transcript: ENST00000529139
  gene symbol: ALG8
  hgvsc: ENST00000529139.1:c.80+7A>T
  variant of: http://identifiers.org/hgnc/23161
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3641
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.546+7A>T
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD

11-77830229-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77830229
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 77830229
    reference: chr 11
allele count: 1
allele frequency: 8.58885167053165e-6
allele num: 116430
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000434660
  ensembl transcript: ENST00000530454
  gene symbol: ALG8
  hgvsc: ENST00000530454.1:c.548A>G
  hgvsp: ENSP00000434660.1:p.Gln183Arg
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000432953
  ensembl transcript: ENST00000529139
  gene symbol: ALG8
  hgvsc: ENST00000529139.1:c.79A>G
  hgvsp: ENSP00000432953.1:p.Gln27Arg
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435417
  ensembl transcript: ENST00000525870
  gene symbol: ALG8
  hgvsc: ENST00000525870.1:c.281A>G
  hgvsp: ENSP00000435417.1:p.Gln94Arg
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000365326
  ensembl transcript: ENST00000376156
  gene symbol: ALG8
  hgvsc: ENST00000376156.3:c.545A>G
  hgvsp: ENSP00000365326.3:p.Gln182Arg
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl transcript: ENST00000532552
  gene symbol: ALG8
  hgvsc: ENST00000532552.2:n.122-9602A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000299626
  ensembl transcript: ENST00000299626
  gene symbol: ALG8
  hgvsc: ENST00000299626.5:c.545A>G
  hgvsp: ENSP00000299626.5:p.Gln182Arg
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435626
  ensembl transcript: ENST00000532306
  gene symbol: ALG8
  hgvsc: ENST00000532306.1:c.166A>G
  hgvsp: ENSP00000435626.1:p.Gln56Arg
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000437199
  ensembl transcript: ENST00000532050
  gene symbol: ALG8
  hgvsc: ENST00000532050.1:c.545A>G
  hgvsp: ENSP00000437199.1:p.Gln182Arg
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435467
  ensembl transcript: ENST00000525755
  gene symbol: ALG8
  hgvsc: ENST00000525755.1:c.392A>G
  hgvsp: ENSP00000435467.1:p.Gln131Arg
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436064
  ensembl transcript: ENST00000527099
  gene symbol: ALG8
  hgvsc: ENST00000527099.1:c.281A>G
  hgvsp: ENSP00000436064.1:p.Gln94Arg
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436366
  ensembl transcript: ENST00000526737
  gene symbol: ALG8
  hgvsc: ENST00000526737.1:c.*177A>G
  variant of: http://identifiers.org/hgnc/23161
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38749
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln182Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS

http://identifiers.org/exac.variant/11-77830238-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77830238
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 77830238
    reference: chr 11
allele count: 1
allele frequency: 8.486803021301875e-6
allele num: 117830
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000365326
  ensembl transcript: ENST00000376156
  gene symbol: ALG8
  hgvsc: ENST00000376156.3:c.536G>T
  hgvsp: ENSP00000365326.3:p.Arg179Leu
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000432953
  ensembl transcript: ENST00000529139
  gene symbol: ALG8
  hgvsc: ENST00000529139.1:c.70G>T
  hgvsp: ENSP00000432953.1:p.Arg24Leu
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000299626
  ensembl transcript: ENST00000299626
  gene symbol: ALG8
  hgvsc: ENST00000299626.5:c.536G>T
  hgvsp: ENSP00000299626.5:p.Arg179Leu
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl transcript: ENST00000532552
  gene symbol: ALG8
  hgvsc: ENST00000532552.2:n.122-9611G>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000437199
  ensembl transcript: ENST00000532050
  gene symbol: ALG8
  hgvsc: ENST00000532050.1:c.536G>T
  hgvsp: ENSP00000437199.1:p.Arg179Leu
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000434660
  ensembl transcript: ENST00000530454
  gene symbol: ALG8
  hgvsc: ENST00000530454.1:c.539G>T
  hgvsp: ENSP00000434660.1:p.Arg180Leu
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435467
  ensembl transcript: ENST00000525755
  gene symbol: ALG8
  hgvsc: ENST00000525755.1:c.383G>T
  hgvsp: ENSP00000435467.1:p.Arg128Leu
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435626
  ensembl transcript: ENST00000532306
  gene symbol: ALG8
  hgvsc: ENST00000532306.1:c.157G>T
  hgvsp: ENSP00000435626.1:p.Arg53Leu
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436366
  ensembl transcript: ENST00000526737
  gene symbol: ALG8
  hgvsc: ENST00000526737.1:c.*168G>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435417
  ensembl transcript: ENST00000525870
  gene symbol: ALG8
  hgvsc: ENST00000525870.1:c.272G>T
  hgvsp: ENSP00000435417.1:p.Arg91Leu
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436064
  ensembl transcript: ENST00000527099
  gene symbol: ALG8
  hgvsc: ENST00000527099.1:c.272G>T
  hgvsp: ENSP00000436064.1:p.Arg91Leu
  variant of: http://identifiers.org/hgnc/23161
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39488
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg179Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

11-77830238-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77830238
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 77830238
    reference: chr 11
allele count: 4
allele frequency: 3.39472120852075e-5
allele num: 117830
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl transcript: ENST00000532552
  gene symbol: ALG8
  hgvsc: ENST00000532552.2:n.122-9611G>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435417
  ensembl transcript: ENST00000525870
  gene symbol: ALG8
  hgvsc: ENST00000525870.1:c.272G>A
  hgvsp: ENSP00000435417.1:p.Arg91Gln
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000437199
  ensembl transcript: ENST00000532050
  gene symbol: ALG8
  hgvsc: ENST00000532050.1:c.536G>A
  hgvsp: ENSP00000437199.1:p.Arg179Gln
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435626
  ensembl transcript: ENST00000532306
  gene symbol: ALG8
  hgvsc: ENST00000532306.1:c.157G>A
  hgvsp: ENSP00000435626.1:p.Arg53Gln
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000365326
  ensembl transcript: ENST00000376156
  gene symbol: ALG8
  hgvsc: ENST00000376156.3:c.536G>A
  hgvsp: ENSP00000365326.3:p.Arg179Gln
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435467
  ensembl transcript: ENST00000525755
  gene symbol: ALG8
  hgvsc: ENST00000525755.1:c.383G>A
  hgvsp: ENSP00000435467.1:p.Arg128Gln
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436064
  ensembl transcript: ENST00000527099
  gene symbol: ALG8
  hgvsc: ENST00000527099.1:c.272G>A
  hgvsp: ENSP00000436064.1:p.Arg91Gln
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000299626
  ensembl transcript: ENST00000299626
  gene symbol: ALG8
  hgvsc: ENST00000299626.5:c.536G>A
  hgvsp: ENSP00000299626.5:p.Arg179Gln
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000432953
  ensembl transcript: ENST00000529139
  gene symbol: ALG8
  hgvsc: ENST00000529139.1:c.70G>A
  hgvsp: ENSP00000432953.1:p.Arg24Gln
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000434660
  ensembl transcript: ENST00000530454
  gene symbol: ALG8
  hgvsc: ENST00000530454.1:c.539G>A
  hgvsp: ENSP00000434660.1:p.Arg180Gln
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436366
  ensembl transcript: ENST00000526737
  gene symbol: ALG8
  hgvsc: ENST00000526737.1:c.*168G>A
  variant of: http://identifiers.org/hgnc/23161
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39488
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7441
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg179Gln
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

11-77830239-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77830239
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 77830239
    reference: chr 11
allele count: 2
allele frequency: 1.694886527346994e-5
allele num: 118002
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000437199
  ensembl transcript: ENST00000532050
  gene symbol: ALG8
  hgvsc: ENST00000532050.1:c.535C>T
  hgvsp: ENSP00000437199.1:p.Arg179Ter
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl transcript: ENST00000532552
  gene symbol: ALG8
  hgvsc: ENST00000532552.2:n.122-9612C>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435417
  ensembl transcript: ENST00000525870
  gene symbol: ALG8
  hgvsc: ENST00000525870.1:c.271C>T
  hgvsp: ENSP00000435417.1:p.Arg91Ter
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435467
  ensembl transcript: ENST00000525755
  gene symbol: ALG8
  hgvsc: ENST00000525755.1:c.382C>T
  hgvsp: ENSP00000435467.1:p.Arg128Ter
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436366
  ensembl transcript: ENST00000526737
  gene symbol: ALG8
  hgvsc: ENST00000526737.1:c.*167C>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000299626
  ensembl transcript: ENST00000299626
  gene symbol: ALG8
  hgvsc: ENST00000299626.5:c.535C>T
  hgvsp: ENSP00000299626.5:p.Arg179Ter
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436064
  ensembl transcript: ENST00000527099
  gene symbol: ALG8
  hgvsc: ENST00000527099.1:c.271C>T
  hgvsp: ENSP00000436064.1:p.Arg91Ter
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000365326
  ensembl transcript: ENST00000376156
  gene symbol: ALG8
  hgvsc: ENST00000376156.3:c.535C>T
  hgvsp: ENSP00000365326.3:p.Arg179Ter
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000432953
  ensembl transcript: ENST00000529139
  gene symbol: ALG8
  hgvsc: ENST00000529139.1:c.69C>T
  hgvsp: ENSP00000432953.1:p.Arg24Ter
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000434660
  ensembl transcript: ENST00000530454
  gene symbol: ALG8
  hgvsc: ENST00000530454.1:c.538C>T
  hgvsp: ENSP00000434660.1:p.Arg180Ter
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435626
  ensembl transcript: ENST00000532306
  gene symbol: ALG8
  hgvsc: ENST00000532306.1:c.156C>T
  hgvsp: ENSP00000435626.1:p.Arg53Ter
  variant of: http://identifiers.org/hgnc/23161
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg179Ter
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

11-77830240-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77830240
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 77830240
    reference: chr 11
allele count: 1
allele frequency: 8.464103736055389e-6
allele num: 118146
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000437199
  ensembl transcript: ENST00000532050
  gene symbol: ALG8
  hgvsc: ENST00000532050.1:c.534A>C
  hgvsp: ENST00000532050.1:c.534A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl transcript: ENST00000532552
  gene symbol: ALG8
  hgvsc: ENST00000532552.2:n.122-9613A>C
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000434660
  ensembl transcript: ENST00000530454
  gene symbol: ALG8
  hgvsc: ENST00000530454.1:c.537A>C
  hgvsp: ENST00000530454.1:c.537A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436366
  ensembl transcript: ENST00000526737
  gene symbol: ALG8
  hgvsc: ENST00000526737.1:c.*166A>C
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000365326
  ensembl transcript: ENST00000376156
  gene symbol: ALG8
  hgvsc: ENST00000376156.3:c.534A>C
  hgvsp: ENST00000376156.3:c.534A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000432953
  ensembl transcript: ENST00000529139
  gene symbol: ALG8
  hgvsc: ENST00000529139.1:c.68A>C
  hgvsp: ENST00000529139.1:c.68A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000299626
  ensembl transcript: ENST00000299626
  gene symbol: ALG8
  hgvsc: ENST00000299626.5:c.534A>C
  hgvsp: ENST00000299626.5:c.534A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435417
  ensembl transcript: ENST00000525870
  gene symbol: ALG8
  hgvsc: ENST00000525870.1:c.270A>C
  hgvsp: ENST00000525870.1:c.270A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435626
  ensembl transcript: ENST00000532306
  gene symbol: ALG8
  hgvsc: ENST00000532306.1:c.155A>C
  hgvsp: ENST00000532306.1:c.155A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435467
  ensembl transcript: ENST00000525755
  gene symbol: ALG8
  hgvsc: ENST00000525755.1:c.381A>C
  hgvsp: ENST00000525755.1:c.381A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436064
  ensembl transcript: ENST00000527099
  gene symbol: ALG8
  hgvsc: ENST00000527099.1:c.270A>C
  hgvsp: ENST00000527099.1:c.270A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39586
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala178Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

11-77830244-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77830244
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 77830244
    reference: chr 11
allele count: 2
allele frequency: 1.688248104941502e-5
allele num: 118466
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000365326
  ensembl transcript: ENST00000376156
  gene symbol: ALG8
  hgvsc: ENST00000376156.3:c.530T>A
  hgvsp: ENSP00000365326.3:p.Ile177Asn
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000437199
  ensembl transcript: ENST00000532050
  gene symbol: ALG8
  hgvsc: ENST00000532050.1:c.530T>A
  hgvsp: ENSP00000437199.1:p.Ile177Asn
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000432953
  ensembl transcript: ENST00000529139
  gene symbol: ALG8
  hgvsc: ENST00000529139.1:c.64T>A
  hgvsp: ENSP00000432953.1:p.Ile22Asn
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000299626
  ensembl transcript: ENST00000299626
  gene symbol: ALG8
  hgvsc: ENST00000299626.5:c.530T>A
  hgvsp: ENSP00000299626.5:p.Ile177Asn
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436366
  ensembl transcript: ENST00000526737
  gene symbol: ALG8
  hgvsc: ENST00000526737.1:c.*162T>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435626
  ensembl transcript: ENST00000532306
  gene symbol: ALG8
  hgvsc: ENST00000532306.1:c.151T>A
  hgvsp: ENSP00000435626.1:p.Ile51Asn
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435417
  ensembl transcript: ENST00000525870
  gene symbol: ALG8
  hgvsc: ENST00000525870.1:c.266T>A
  hgvsp: ENSP00000435417.1:p.Ile89Asn
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000434660
  ensembl transcript: ENST00000530454
  gene symbol: ALG8
  hgvsc: ENST00000530454.1:c.533T>A
  hgvsp: ENSP00000434660.1:p.Ile178Asn
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436064
  ensembl transcript: ENST00000527099
  gene symbol: ALG8
  hgvsc: ENST00000527099.1:c.266T>A
  hgvsp: ENSP00000436064.1:p.Ile89Asn
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl transcript: ENST00000532552
  gene symbol: ALG8
  hgvsc: ENST00000532552.2:n.122-9617T>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435467
  ensembl transcript: ENST00000525755
  gene symbol: ALG8
  hgvsc: ENST00000525755.1:c.377T>A
  hgvsp: ENSP00000435467.1:p.Ile126Asn
  variant of: http://identifiers.org/hgnc/23161
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39630
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile177Asn
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-77830261-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77830261
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 77830261
    reference: chr 11
allele count: 1
allele frequency: 8.404350091607416e-6
allele num: 118986
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000434660
  ensembl transcript: ENST00000530454
  gene symbol: ALG8
  hgvsc: ENST00000530454.1:c.516A>G
  hgvsp: ENST00000530454.1:c.516A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436064
  ensembl transcript: ENST00000527099
  gene symbol: ALG8
  hgvsc: ENST00000527099.1:c.249A>G
  hgvsp: ENST00000527099.1:c.249A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000299626
  ensembl transcript: ENST00000299626
  gene symbol: ALG8
  hgvsc: ENST00000299626.5:c.513A>G
  hgvsp: ENST00000299626.5:c.513A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436366
  ensembl transcript: ENST00000526737
  gene symbol: ALG8
  hgvsc: ENST00000526737.1:c.*145A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl transcript: ENST00000532552
  gene symbol: ALG8
  hgvsc: ENST00000532552.2:n.122-9634A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435626
  ensembl transcript: ENST00000532306
  gene symbol: ALG8
  hgvsc: ENST00000532306.1:c.134A>G
  hgvsp: ENST00000532306.1:c.134A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435417
  ensembl transcript: ENST00000525870
  gene symbol: ALG8
  hgvsc: ENST00000525870.1:c.249A>G
  hgvsp: ENST00000525870.1:c.249A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000365326
  ensembl transcript: ENST00000376156
  gene symbol: ALG8
  hgvsc: ENST00000376156.3:c.513A>G
  hgvsp: ENST00000376156.3:c.513A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435467
  ensembl transcript: ENST00000525755
  gene symbol: ALG8
  hgvsc: ENST00000525755.1:c.360A>G
  hgvsp: ENST00000525755.1:c.360A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000432953
  ensembl transcript: ENST00000529139
  gene symbol: ALG8
  hgvsc: ENST00000529139.1:c.47A>G
  hgvsp: ENST00000529139.1:c.47A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000437199
  ensembl transcript: ENST00000532050
  gene symbol: ALG8
  hgvsc: ENST00000532050.1:c.513A>G
  hgvsp: ENST00000532050.1:c.513A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8118
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly171Gly
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

11-77830262-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77830262
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 77830262
    reference: chr 11
allele count: 1
allele frequency: 8.403502579875292e-6
allele num: 118998
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000299626
  ensembl transcript: ENST00000299626
  gene symbol: ALG8
  hgvsc: ENST00000299626.5:c.512G>A
  hgvsp: ENSP00000299626.5:p.Gly171Glu
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000432953
  ensembl transcript: ENST00000529139
  gene symbol: ALG8
  hgvsc: ENST00000529139.1:c.46G>A
  hgvsp: ENSP00000432953.1:p.Gly16Glu
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436366
  ensembl transcript: ENST00000526737
  gene symbol: ALG8
  hgvsc: ENST00000526737.1:c.*144G>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000365326
  ensembl transcript: ENST00000376156
  gene symbol: ALG8
  hgvsc: ENST00000376156.3:c.512G>A
  hgvsp: ENSP00000365326.3:p.Gly171Glu
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435626
  ensembl transcript: ENST00000532306
  gene symbol: ALG8
  hgvsc: ENST00000532306.1:c.133G>A
  hgvsp: ENSP00000435626.1:p.Gly45Glu
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435417
  ensembl transcript: ENST00000525870
  gene symbol: ALG8
  hgvsc: ENST00000525870.1:c.248G>A
  hgvsp: ENSP00000435417.1:p.Gly83Glu
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436064
  ensembl transcript: ENST00000527099
  gene symbol: ALG8
  hgvsc: ENST00000527099.1:c.248G>A
  hgvsp: ENSP00000436064.1:p.Gly83Glu
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000434660
  ensembl transcript: ENST00000530454
  gene symbol: ALG8
  hgvsc: ENST00000530454.1:c.515G>A
  hgvsp: ENSP00000434660.1:p.Gly172Glu
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000437199
  ensembl transcript: ENST00000532050
  gene symbol: ALG8
  hgvsc: ENST00000532050.1:c.512G>A
  hgvsp: ENSP00000437199.1:p.Gly171Glu
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl transcript: ENST00000532552
  gene symbol: ALG8
  hgvsc: ENST00000532552.2:n.122-9635G>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435467
  ensembl transcript: ENST00000525755
  gene symbol: ALG8
  hgvsc: ENST00000525755.1:c.359G>A
  hgvsp: ENSP00000435467.1:p.Gly120Glu
  variant of: http://identifiers.org/hgnc/23161
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly171Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

11-77830283-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77830283
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 77830283
    reference: chr 11
allele count: 1
allele frequency: 8.443378702421561e-6
allele num: 118436
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435417
  ensembl transcript: ENST00000525870
  gene symbol: ALG8
  hgvsc: ENST00000525870.1:c.227A>G
  hgvsp: ENSP00000435417.1:p.Gln76Arg
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435626
  ensembl transcript: ENST00000532306
  gene symbol: ALG8
  hgvsc: ENST00000532306.1:c.112A>G
  hgvsp: ENSP00000435626.1:p.Gln38Arg
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000437199
  ensembl transcript: ENST00000532050
  gene symbol: ALG8
  hgvsc: ENST00000532050.1:c.491A>G
  hgvsp: ENSP00000437199.1:p.Gln164Arg
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435467
  ensembl transcript: ENST00000525755
  gene symbol: ALG8
  hgvsc: ENST00000525755.1:c.338A>G
  hgvsp: ENSP00000435467.1:p.Gln113Arg
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000299626
  ensembl transcript: ENST00000299626
  gene symbol: ALG8
  hgvsc: ENST00000299626.5:c.491A>G
  hgvsp: ENSP00000299626.5:p.Gln164Arg
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl transcript: ENST00000532552
  gene symbol: ALG8
  hgvsc: ENST00000532552.2:n.122-9656A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436366
  ensembl transcript: ENST00000526737
  gene symbol: ALG8
  hgvsc: ENST00000526737.1:c.*123A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000434660
  ensembl transcript: ENST00000530454
  gene symbol: ALG8
  hgvsc: ENST00000530454.1:c.494A>G
  hgvsp: ENSP00000434660.1:p.Gln165Arg
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000365326
  ensembl transcript: ENST00000376156
  gene symbol: ALG8
  hgvsc: ENST00000376156.3:c.491A>G
  hgvsp: ENSP00000365326.3:p.Gln164Arg
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000432953
  ensembl transcript: ENST00000529139
  gene symbol: ALG8
  hgvsc: ENST00000529139.1:c.25A>G
  hgvsp: ENSP00000432953.1:p.Gln9Arg
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436064
  ensembl transcript: ENST00000527099
  gene symbol: ALG8
  hgvsc: ENST00000527099.1:c.227A>G
  hgvsp: ENSP00000436064.1:p.Gln76Arg
  variant of: http://identifiers.org/hgnc/23161
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8408
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln164Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

11-77830288-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77830288
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 77830288
    reference: chr 11
allele count: 1
allele frequency: 8.456516591685553e-6
allele num: 118252
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000434660
  ensembl transcript: ENST00000530454
  gene symbol: ALG8
  hgvsc: ENST00000530454.1:c.489T>C
  hgvsp: ENST00000530454.1:c.489T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435467
  ensembl transcript: ENST00000525755
  gene symbol: ALG8
  hgvsc: ENST00000525755.1:c.333T>C
  hgvsp: ENST00000525755.1:c.333T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000432953
  ensembl transcript: ENST00000529139
  gene symbol: ALG8
  hgvsc: ENST00000529139.1:c.20T>C
  hgvsp: ENST00000529139.1:c.20T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl transcript: ENST00000532552
  gene symbol: ALG8
  hgvsc: ENST00000532552.2:n.122-9661T>C
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000299626
  ensembl transcript: ENST00000299626
  gene symbol: ALG8
  hgvsc: ENST00000299626.5:c.486T>C
  hgvsp: ENST00000299626.5:c.486T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000437199
  ensembl transcript: ENST00000532050
  gene symbol: ALG8
  hgvsc: ENST00000532050.1:c.486T>C
  hgvsp: ENST00000532050.1:c.486T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436366
  ensembl transcript: ENST00000526737
  gene symbol: ALG8
  hgvsc: ENST00000526737.1:c.*118T>C
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436064
  ensembl transcript: ENST00000527099
  gene symbol: ALG8
  hgvsc: ENST00000527099.1:c.222T>C
  hgvsp: ENST00000527099.1:c.222T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435626
  ensembl transcript: ENST00000532306
  gene symbol: ALG8
  hgvsc: ENST00000532306.1:c.107T>C
  hgvsp: ENST00000532306.1:c.107T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435417
  ensembl transcript: ENST00000525870
  gene symbol: ALG8
  hgvsc: ENST00000525870.1:c.222T>C
  hgvsp: ENST00000525870.1:c.222T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000365326
  ensembl transcript: ENST00000376156
  gene symbol: ALG8
  hgvsc: ENST00000376156.3:c.486T>C
  hgvsp: ENST00000376156.3:c.486T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8372
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His162His
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-77830292-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77830292
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 77830292
    reference: chr 11
allele count: 11
allele frequency: 9.322507924131735e-5
allele num: 117994
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000434660
  ensembl transcript: ENST00000530454
  gene symbol: ALG8
  hgvsc: ENST00000530454.1:c.485T>C
  hgvsp: ENSP00000434660.1:p.Ile162Thr
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000365326
  ensembl transcript: ENST00000376156
  gene symbol: ALG8
  hgvsc: ENST00000376156.3:c.482T>C
  hgvsp: ENSP00000365326.3:p.Ile161Thr
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435417
  ensembl transcript: ENST00000525870
  gene symbol: ALG8
  hgvsc: ENST00000525870.1:c.218T>C
  hgvsp: ENSP00000435417.1:p.Ile73Thr
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000299626
  ensembl transcript: ENST00000299626
  gene symbol: ALG8
  hgvsc: ENST00000299626.5:c.482T>C
  hgvsp: ENSP00000299626.5:p.Ile161Thr
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436064
  ensembl transcript: ENST00000527099
  gene symbol: ALG8
  hgvsc: ENST00000527099.1:c.218T>C
  hgvsp: ENSP00000436064.1:p.Ile73Thr
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000437199
  ensembl transcript: ENST00000532050
  gene symbol: ALG8
  hgvsc: ENST00000532050.1:c.482T>C
  hgvsp: ENSP00000437199.1:p.Ile161Thr
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436366
  ensembl transcript: ENST00000526737
  gene symbol: ALG8
  hgvsc: ENST00000526737.1:c.*114T>C
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435467
  ensembl transcript: ENST00000525755
  gene symbol: ALG8
  hgvsc: ENST00000525755.1:c.329T>C
  hgvsp: ENSP00000435467.1:p.Ile110Thr
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl transcript: ENST00000532552
  gene symbol: ALG8
  hgvsc: ENST00000532552.2:n.122-9665T>C
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000432953
  ensembl transcript: ENST00000529139
  gene symbol: ALG8
  hgvsc: ENST00000529139.1:c.16T>C
  hgvsp: ENSP00000432953.1:p.Ile6Thr
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435626
  ensembl transcript: ENST00000532306
  gene symbol: ALG8
  hgvsc: ENST00000532306.1:c.103T>C
  hgvsp: ENSP00000435626.1:p.Ile35Thr
  variant of: http://identifiers.org/hgnc/23161
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8351
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile161Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

11-77830298-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77830298
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 77830298
    reference: chr 11
allele count: 3
allele frequency: 2.552018646749579e-5
allele num: 117554
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000299626
  ensembl transcript: ENST00000299626
  gene symbol: ALG8
  hgvsc: ENST00000299626.5:c.479-3C>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000365326
  ensembl transcript: ENST00000376156
  gene symbol: ALG8
  hgvsc: ENST00000376156.3:c.479-3C>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000437199
  ensembl transcript: ENST00000532050
  gene symbol: ALG8
  hgvsc: ENST00000532050.1:c.479-3C>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435417
  ensembl transcript: ENST00000525870
  gene symbol: ALG8
  hgvsc: ENST00000525870.1:c.215-3C>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl transcript: ENST00000532552
  gene symbol: ALG8
  hgvsc: ENST00000532552.2:n.122-9671C>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000432953
  ensembl transcript: ENST00000529139
  gene symbol: ALG8
  hgvsc: ENST00000529139.1:c.13-3C>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435467
  ensembl transcript: ENST00000525755
  gene symbol: ALG8
  hgvsc: ENST00000525755.1:c.326-3C>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000434660
  ensembl transcript: ENST00000530454
  gene symbol: ALG8
  hgvsc: ENST00000530454.1:c.482-3C>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436064
  ensembl transcript: ENST00000527099
  gene symbol: ALG8
  hgvsc: ENST00000527099.1:c.215-3C>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436366
  ensembl transcript: ENST00000526737
  gene symbol: ALG8
  hgvsc: ENST00000526737.1:c.*111-3C>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435626
  ensembl transcript: ENST00000532306
  gene symbol: ALG8
  hgvsc: ENST00000532306.1:c.100-3C>G
  variant of: http://identifiers.org/hgnc/23161
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8209
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.479-3C>G
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ

11-77830323-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77830323
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 77830323
    reference: chr 11
allele count: 1
allele frequency: 8.614303189015041e-6
allele num: 116086
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436366
  ensembl transcript: ENST00000526737
  gene symbol: ALG8
  hgvsc: ENST00000526737.1:c.*111-28C>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436064
  ensembl transcript: ENST00000527099
  gene symbol: ALG8
  hgvsc: ENST00000527099.1:c.215-28C>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000365326
  ensembl transcript: ENST00000376156
  gene symbol: ALG8
  hgvsc: ENST00000376156.3:c.479-28C>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435417
  ensembl transcript: ENST00000525870
  gene symbol: ALG8
  hgvsc: ENST00000525870.1:c.215-28C>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000432953
  ensembl transcript: ENST00000529139
  gene symbol: ALG8
  hgvsc: ENST00000529139.1:c.13-28C>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl transcript: ENST00000532552
  gene symbol: ALG8
  hgvsc: ENST00000532552.2:n.122-9696C>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000437199
  ensembl transcript: ENST00000532050
  gene symbol: ALG8
  hgvsc: ENST00000532050.1:c.479-28C>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000299626
  ensembl transcript: ENST00000299626
  gene symbol: ALG8
  hgvsc: ENST00000299626.5:c.479-28C>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435626
  ensembl transcript: ENST00000532306
  gene symbol: ALG8
  hgvsc: ENST00000532306.1:c.100-28C>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000434660
  ensembl transcript: ENST00000530454
  gene symbol: ALG8
  hgvsc: ENST00000530454.1:c.482-28C>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435467
  ensembl transcript: ENST00000525755
  gene symbol: ALG8
  hgvsc: ENST00000525755.1:c.326-28C>G
  variant of: http://identifiers.org/hgnc/23161
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8910
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5506
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25689
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7042
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6072
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

11-77830324-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77830324
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 77830324
    reference: chr 11
allele count: 1
allele frequency: 8.618312189740762e-6
allele num: 116032
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000432953
  ensembl transcript: ENST00000529139
  gene symbol: ALG8
  hgvsc: ENST00000529139.1:c.13-29T>C
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435467
  ensembl transcript: ENST00000525755
  gene symbol: ALG8
  hgvsc: ENST00000525755.1:c.326-29T>C
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435626
  ensembl transcript: ENST00000532306
  gene symbol: ALG8
  hgvsc: ENST00000532306.1:c.100-29T>C
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000299626
  ensembl transcript: ENST00000299626
  gene symbol: ALG8
  hgvsc: ENST00000299626.5:c.479-29T>C
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436064
  ensembl transcript: ENST00000527099
  gene symbol: ALG8
  hgvsc: ENST00000527099.1:c.215-29T>C
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl transcript: ENST00000532552
  gene symbol: ALG8
  hgvsc: ENST00000532552.2:n.122-9697T>C
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436366
  ensembl transcript: ENST00000526737
  gene symbol: ALG8
  hgvsc: ENST00000526737.1:c.*111-29T>C
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000365326
  ensembl transcript: ENST00000376156
  gene symbol: ALG8
  hgvsc: ENST00000376156.3:c.479-29T>C
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000437199
  ensembl transcript: ENST00000532050
  gene symbol: ALG8
  hgvsc: ENST00000532050.1:c.479-29T>C
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000434660
  ensembl transcript: ENST00000530454
  gene symbol: ALG8
  hgvsc: ENST00000530454.1:c.482-29T>C
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435417
  ensembl transcript: ENST00000525870
  gene symbol: ALG8
  hgvsc: ENST00000525870.1:c.215-29T>C
  variant of: http://identifiers.org/hgnc/23161
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

11-77830325-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77830325
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 77830325
    reference: chr 11
allele count: 4
allele frequency: 3.451727589658624e-5
allele num: 115884
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000437199
  ensembl transcript: ENST00000532050
  gene symbol: ALG8
  hgvsc: ENST00000532050.1:c.479-30C>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000365326
  ensembl transcript: ENST00000376156
  gene symbol: ALG8
  hgvsc: ENST00000376156.3:c.479-30C>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl transcript: ENST00000532552
  gene symbol: ALG8
  hgvsc: ENST00000532552.2:n.122-9698C>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000434660
  ensembl transcript: ENST00000530454
  gene symbol: ALG8
  hgvsc: ENST00000530454.1:c.482-30C>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000432953
  ensembl transcript: ENST00000529139
  gene symbol: ALG8
  hgvsc: ENST00000529139.1:c.13-30C>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435467
  ensembl transcript: ENST00000525755
  gene symbol: ALG8
  hgvsc: ENST00000525755.1:c.326-30C>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435417
  ensembl transcript: ENST00000525870
  gene symbol: ALG8
  hgvsc: ENST00000525870.1:c.215-30C>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436064
  ensembl transcript: ENST00000527099
  gene symbol: ALG8
  hgvsc: ENST00000527099.1:c.215-30C>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435626
  ensembl transcript: ENST00000532306
  gene symbol: ALG8
  hgvsc: ENST00000532306.1:c.100-30C>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000299626
  ensembl transcript: ENST00000299626
  gene symbol: ALG8
  hgvsc: ENST00000299626.5:c.479-30C>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436366
  ensembl transcript: ENST00000526737
  gene symbol: ALG8
  hgvsc: ENST00000526737.1:c.*111-30C>T
  variant of: http://identifiers.org/hgnc/23161
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6826
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24844
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

11-77830332-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77830332
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 77830332
    reference: chr 11
allele count: 2
allele frequency: 1.731032214509512e-5
allele num: 115538
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435417
  ensembl transcript: ENST00000525870
  gene symbol: ALG8
  hgvsc: ENST00000525870.1:c.215-37T>C
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000299626
  ensembl transcript: ENST00000299626
  gene symbol: ALG8
  hgvsc: ENST00000299626.5:c.479-37T>C
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000437199
  ensembl transcript: ENST00000532050
  gene symbol: ALG8
  hgvsc: ENST00000532050.1:c.479-37T>C
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl transcript: ENST00000532552
  gene symbol: ALG8
  hgvsc: ENST00000532552.2:n.122-9705T>C
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436064
  ensembl transcript: ENST00000527099
  gene symbol: ALG8
  hgvsc: ENST00000527099.1:c.215-37T>C
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436366
  ensembl transcript: ENST00000526737
  gene symbol: ALG8
  hgvsc: ENST00000526737.1:c.*111-37T>C
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435626
  ensembl transcript: ENST00000532306
  gene symbol: ALG8
  hgvsc: ENST00000532306.1:c.100-37T>C
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435467
  ensembl transcript: ENST00000525755
  gene symbol: ALG8
  hgvsc: ENST00000525755.1:c.326-37T>C
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000432953
  ensembl transcript: ENST00000529139
  gene symbol: ALG8
  hgvsc: ENST00000529139.1:c.13-37T>C
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000434660
  ensembl transcript: ENST00000530454
  gene symbol: ALG8
  hgvsc: ENST00000530454.1:c.482-37T>C
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000365326
  ensembl transcript: ENST00000376156
  gene symbol: ALG8
  hgvsc: ENST00000376156.3:c.479-37T>C
  variant of: http://identifiers.org/hgnc/23161
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20308
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9863
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10610
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum

11-77830335-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77830335
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 77830335
    reference: chr 11
allele count: 1
allele frequency: 8.67648845159387e-6
allele num: 115254
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435467
  ensembl transcript: ENST00000525755
  gene symbol: ALG8
  hgvsc: ENST00000525755.1:c.326-40A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000432953
  ensembl transcript: ENST00000529139
  gene symbol: ALG8
  hgvsc: ENST00000529139.1:c.13-40A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000365326
  ensembl transcript: ENST00000376156
  gene symbol: ALG8
  hgvsc: ENST00000376156.3:c.479-40A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435417
  ensembl transcript: ENST00000525870
  gene symbol: ALG8
  hgvsc: ENST00000525870.1:c.215-40A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000437199
  ensembl transcript: ENST00000532050
  gene symbol: ALG8
  hgvsc: ENST00000532050.1:c.479-40A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436366
  ensembl transcript: ENST00000526737
  gene symbol: ALG8
  hgvsc: ENST00000526737.1:c.*111-40A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000434660
  ensembl transcript: ENST00000530454
  gene symbol: ALG8
  hgvsc: ENST00000530454.1:c.482-40A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435626
  ensembl transcript: ENST00000532306
  gene symbol: ALG8
  hgvsc: ENST00000532306.1:c.100-40A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl transcript: ENST00000532552
  gene symbol: ALG8
  hgvsc: ENST00000532552.2:n.122-9708A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000299626
  ensembl transcript: ENST00000299626
  gene symbol: ALG8
  hgvsc: ENST00000299626.5:c.479-40A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436064
  ensembl transcript: ENST00000527099
  gene symbol: ALG8
  hgvsc: ENST00000527099.1:c.215-40A>G
  variant of: http://identifiers.org/hgnc/23161
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5836
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12539
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9832
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5688
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

11-77830343-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77830343
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 77830343
    reference: chr 11
allele count: 3
allele frequency: 2.631809807877884e-5
allele num: 113990
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435417
  ensembl transcript: ENST00000525870
  gene symbol: ALG8
  hgvsc: ENST00000525870.1:c.215-48C>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000437199
  ensembl transcript: ENST00000532050
  gene symbol: ALG8
  hgvsc: ENST00000532050.1:c.479-48C>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl transcript: ENST00000532552
  gene symbol: ALG8
  hgvsc: ENST00000532552.2:n.122-9716C>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000434660
  ensembl transcript: ENST00000530454
  gene symbol: ALG8
  hgvsc: ENST00000530454.1:c.482-48C>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436064
  ensembl transcript: ENST00000527099
  gene symbol: ALG8
  hgvsc: ENST00000527099.1:c.215-48C>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436366
  ensembl transcript: ENST00000526737
  gene symbol: ALG8
  hgvsc: ENST00000526737.1:c.*111-48C>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000432953
  ensembl transcript: ENST00000529139
  gene symbol: ALG8
  hgvsc: ENST00000529139.1:c.13-48C>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000299626
  ensembl transcript: ENST00000299626
  gene symbol: ALG8
  hgvsc: ENST00000299626.5:c.479-48C>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435626
  ensembl transcript: ENST00000532306
  gene symbol: ALG8
  hgvsc: ENST00000532306.1:c.100-48C>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435467
  ensembl transcript: ENST00000525755
  gene symbol: ALG8
  hgvsc: ENST00000525755.1:c.326-48C>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000365326
  ensembl transcript: ENST00000376156
  gene symbol: ALG8
  hgvsc: ENST00000376156.3:c.479-48C>A
  variant of: http://identifiers.org/hgnc/23161
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13393
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9664
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

11-77830346-C-CTATA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77830346
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 77830350
    reference: chr 11
allele count: 1
allele frequency: 8.863833785388856e-6
allele num: 112818
alternate allele: CTATA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl transcript: ENST00000532552
  gene symbol: ALG8
  hgvsc: ENST00000532552.2:n.122-9723_122-9720dupTATA
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435417
  ensembl transcript: ENST00000525870
  gene symbol: ALG8
  hgvsc: ENST00000525870.1:c.215-55_215-52dupTATA
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436064
  ensembl transcript: ENST00000527099
  gene symbol: ALG8
  hgvsc: ENST00000527099.1:c.215-55_215-52dupTATA
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000299626
  ensembl transcript: ENST00000299626
  gene symbol: ALG8
  hgvsc: ENST00000299626.5:c.479-55_479-52dupTATA
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000437199
  ensembl transcript: ENST00000532050
  gene symbol: ALG8
  hgvsc: ENST00000532050.1:c.479-55_479-52dupTATA
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000434660
  ensembl transcript: ENST00000530454
  gene symbol: ALG8
  hgvsc: ENST00000530454.1:c.482-55_482-52dupTATA
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000432953
  ensembl transcript: ENST00000529139
  gene symbol: ALG8
  hgvsc: ENST00000529139.1:c.13-55_13-52dupTATA
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436366
  ensembl transcript: ENST00000526737
  gene symbol: ALG8
  hgvsc: ENST00000526737.1:c.*111-55_*111-52dupTATA
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435467
  ensembl transcript: ENST00000525755
  gene symbol: ALG8
  hgvsc: ENST00000525755.1:c.326-55_326-52dupTATA
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435626
  ensembl transcript: ENST00000532306
  gene symbol: ALG8
  hgvsc: ENST00000532306.1:c.100-55_100-52dupTATA
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000365326
  ensembl transcript: ENST00000376156
  gene symbol: ALG8
  hgvsc: ENST00000376156.3:c.479-55_479-52dupTATA
  variant of: http://identifiers.org/hgnc/23161
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13338
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3230
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9616
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5920
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3281
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum

11-77832064-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77832064
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 77832064
    reference: chr 11
allele count: 1
allele frequency: 8.274446853227862e-6
allele num: 120854
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000432953
  ensembl transcript: ENST00000529139
  gene symbol: ALG8
  hgvsc: ENST00000529139.1:c.12+47T>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl transcript: ENST00000532552
  gene symbol: ALG8
  hgvsc: ENST00000532552.2:n.122-11437T>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436366
  ensembl transcript: ENST00000526737
  gene symbol: ALG8
  hgvsc: ENST00000526737.1:c.*110+47T>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000365326
  ensembl transcript: ENST00000376156
  gene symbol: ALG8
  hgvsc: ENST00000376156.3:c.478+47T>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000299626
  ensembl transcript: ENST00000299626
  gene symbol: ALG8
  hgvsc: ENST00000299626.5:c.478+47T>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435417
  ensembl transcript: ENST00000525870
  gene symbol: ALG8
  hgvsc: ENST00000525870.1:c.214+47T>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436064
  ensembl transcript: ENST00000527099
  gene symbol: ALG8
  hgvsc: ENST00000527099.1:c.214+47T>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435467
  ensembl transcript: ENST00000525755
  gene symbol: ALG8
  hgvsc: ENST00000525755.1:c.325+47T>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000437199
  ensembl transcript: ENST00000532050
  gene symbol: ALG8
  hgvsc: ENST00000532050.1:c.478+47T>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435626
  ensembl transcript: ENST00000532306
  gene symbol: ALG8
  hgvsc: ENST00000532306.1:c.99+47T>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000434660
  ensembl transcript: ENST00000530454
  gene symbol: ALG8
  hgvsc: ENST00000530454.1:c.481+47T>A
  variant of: http://identifiers.org/hgnc/23161
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9661
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3760
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP

11-77832067-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77832067
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 77832067
    reference: chr 11
allele count: 1
allele frequency: 8.274583788435442e-6
allele num: 120852
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000432953
  ensembl transcript: ENST00000529139
  gene symbol: ALG8
  hgvsc: ENST00000529139.1:c.12+44G>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435626
  ensembl transcript: ENST00000532306
  gene symbol: ALG8
  hgvsc: ENST00000532306.1:c.99+44G>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435417
  ensembl transcript: ENST00000525870
  gene symbol: ALG8
  hgvsc: ENST00000525870.1:c.214+44G>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436366
  ensembl transcript: ENST00000526737
  gene symbol: ALG8
  hgvsc: ENST00000526737.1:c.*110+44G>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000365326
  ensembl transcript: ENST00000376156
  gene symbol: ALG8
  hgvsc: ENST00000376156.3:c.478+44G>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000437199
  ensembl transcript: ENST00000532050
  gene symbol: ALG8
  hgvsc: ENST00000532050.1:c.478+44G>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436064
  ensembl transcript: ENST00000527099
  gene symbol: ALG8
  hgvsc: ENST00000527099.1:c.214+44G>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000299626
  ensembl transcript: ENST00000299626
  gene symbol: ALG8
  hgvsc: ENST00000299626.5:c.478+44G>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435467
  ensembl transcript: ENST00000525755
  gene symbol: ALG8
  hgvsc: ENST00000525755.1:c.325+44G>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000434660
  ensembl transcript: ENST00000530454
  gene symbol: ALG8
  hgvsc: ENST00000530454.1:c.481+44G>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl transcript: ENST00000532552
  gene symbol: ALG8
  hgvsc: ENST00000532552.2:n.122-11440G>A
  variant of: http://identifiers.org/hgnc/23161
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9798
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8309
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3835
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/11-77832068-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77832068
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 77832068
    reference: chr 11
allele count: 1
allele frequency: 8.272940865018697e-6
allele num: 120876
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl transcript: ENST00000532552
  gene symbol: ALG8
  hgvsc: ENST00000532552.2:n.122-11441T>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000434660
  ensembl transcript: ENST00000530454
  gene symbol: ALG8
  hgvsc: ENST00000530454.1:c.481+43T>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435417
  ensembl transcript: ENST00000525870
  gene symbol: ALG8
  hgvsc: ENST00000525870.1:c.214+43T>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000432953
  ensembl transcript: ENST00000529139
  gene symbol: ALG8
  hgvsc: ENST00000529139.1:c.12+43T>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000437199
  ensembl transcript: ENST00000532050
  gene symbol: ALG8
  hgvsc: ENST00000532050.1:c.478+43T>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000299626
  ensembl transcript: ENST00000299626
  gene symbol: ALG8
  hgvsc: ENST00000299626.5:c.478+43T>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435626
  ensembl transcript: ENST00000532306
  gene symbol: ALG8
  hgvsc: ENST00000532306.1:c.99+43T>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435467
  ensembl transcript: ENST00000525755
  gene symbol: ALG8
  hgvsc: ENST00000525755.1:c.325+43T>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000365326
  ensembl transcript: ENST00000376156
  gene symbol: ALG8
  hgvsc: ENST00000376156.3:c.478+43T>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436366
  ensembl transcript: ENST00000526737
  gene symbol: ALG8
  hgvsc: ENST00000526737.1:c.*110+43T>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436064
  ensembl transcript: ENST00000527099
  gene symbol: ALG8
  hgvsc: ENST00000527099.1:c.214+43T>G
  variant of: http://identifiers.org/hgnc/23161
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8317
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6215
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

11-77832074-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77832074
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 77832074
    reference: chr 11
allele count: 2
allele frequency: 1.653466492501529e-5
allele num: 120958
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000432953
  ensembl transcript: ENST00000529139
  gene symbol: ALG8
  hgvsc: ENST00000529139.1:c.12+37T>C
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000299626
  ensembl transcript: ENST00000299626
  gene symbol: ALG8
  hgvsc: ENST00000299626.5:c.478+37T>C
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl transcript: ENST00000532552
  gene symbol: ALG8
  hgvsc: ENST00000532552.2:n.122-11447T>C
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000434660
  ensembl transcript: ENST00000530454
  gene symbol: ALG8
  hgvsc: ENST00000530454.1:c.481+37T>C
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436366
  ensembl transcript: ENST00000526737
  gene symbol: ALG8
  hgvsc: ENST00000526737.1:c.*110+37T>C
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435467
  ensembl transcript: ENST00000525755
  gene symbol: ALG8
  hgvsc: ENST00000525755.1:c.325+37T>C
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435626
  ensembl transcript: ENST00000532306
  gene symbol: ALG8
  hgvsc: ENST00000532306.1:c.99+37T>C
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436064
  ensembl transcript: ENST00000527099
  gene symbol: ALG8
  hgvsc: ENST00000527099.1:c.214+37T>C
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000437199
  ensembl transcript: ENST00000532050
  gene symbol: ALG8
  hgvsc: ENST00000532050.1:c.478+37T>C
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000365326
  ensembl transcript: ENST00000376156
  gene symbol: ALG8
  hgvsc: ENST00000376156.3:c.478+37T>C
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435417
  ensembl transcript: ENST00000525870
  gene symbol: ALG8
  hgvsc: ENST00000525870.1:c.214+37T>C
  variant of: http://identifiers.org/hgnc/23161
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6166
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3978
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

11-77832076-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77832076
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 77832076
    reference: chr 11
allele count: 121279
allele frequency: 9.999917546174143e-1
allele num: 121280
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000299626
  ensembl transcript: ENST00000299626
  gene symbol: ALG8
  hgvsc: ENST00000299626.5:c.478+35A>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436064
  ensembl transcript: ENST00000527099
  gene symbol: ALG8
  hgvsc: ENST00000527099.1:c.214+35A>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl transcript: ENST00000532552
  gene symbol: ALG8
  hgvsc: ENST00000532552.2:n.122-11449A>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000437199
  ensembl transcript: ENST00000532050
  gene symbol: ALG8
  hgvsc: ENST00000532050.1:c.478+35A>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436366
  ensembl transcript: ENST00000526737
  gene symbol: ALG8
  hgvsc: ENST00000526737.1:c.*110+35A>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000432953
  ensembl transcript: ENST00000529139
  gene symbol: ALG8
  hgvsc: ENST00000529139.1:c.12+35A>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435417
  ensembl transcript: ENST00000525870
  gene symbol: ALG8
  hgvsc: ENST00000525870.1:c.214+35A>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000434660
  ensembl transcript: ENST00000530454
  gene symbol: ALG8
  hgvsc: ENST00000530454.1:c.481+35A>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435467
  ensembl transcript: ENST00000525755
  gene symbol: ALG8
  hgvsc: ENST00000525755.1:c.325+35A>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000365326
  ensembl transcript: ENST00000376156
  gene symbol: ALG8
  hgvsc: ENST00000376156.3:c.478+35A>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435626
  ensembl transcript: ENST00000532306
  gene symbol: ALG8
  hgvsc: ENST00000532306.1:c.99+35A>T
  variant of: http://identifiers.org/hgnc/23161
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7291
  bin: 4.75e1
  variant carriers: 7291
genotype depth: GenotypeDepth
  all individuals: 5535
  bin: 9.75e1
  variant carriers: 5535
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 8.25e1
  variant carriers: 1154
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 2.75e1
  variant carriers: 3058
genotype depth: GenotypeDepth
  all individuals: 6575
  bin: 3.75e1
  variant carriers: 6575
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.25e1
  variant carriers: 183
genotype depth: GenotypeDepth
  all individuals: 6332
  bin: 5.25e1
  variant carriers: 6332
genotype depth: GenotypeDepth
  all individuals: 7180
  bin: 4.25e1
  variant carriers: 7180
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 5.75e1
  variant carriers: 5003
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 2.25e1
  variant carriers: 1502
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 1.75e1
  variant carriers: 529
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 9.25e1
  variant carriers: 926
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4921
  bin: 3.25e1
  variant carriers: 4921
genotype depth: GenotypeDepth
  all individuals: 3632
  bin: 6.25e1
  variant carriers: 3632
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 6.75e1
  variant carriers: 2562
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 7.75e1
  variant carriers: 1336
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 7.25e1
  variant carriers: 1846
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 8.75e1
  variant carriers: 1076
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 11
num of homozygotes: 60639
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: T
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

11-77832087-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77832087
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 77832087
    reference: chr 11
allele count: 4
allele frequency: 3.29777235477435e-5
allele num: 121294
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000434660
  ensembl transcript: ENST00000530454
  gene symbol: ALG8
  hgvsc: ENST00000530454.1:c.481+24A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000432953
  ensembl transcript: ENST00000529139
  gene symbol: ALG8
  hgvsc: ENST00000529139.1:c.12+24A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000437199
  ensembl transcript: ENST00000532050
  gene symbol: ALG8
  hgvsc: ENST00000532050.1:c.478+24A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000365326
  ensembl transcript: ENST00000376156
  gene symbol: ALG8
  hgvsc: ENST00000376156.3:c.478+24A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436366
  ensembl transcript: ENST00000526737
  gene symbol: ALG8
  hgvsc: ENST00000526737.1:c.*110+24A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436064
  ensembl transcript: ENST00000527099
  gene symbol: ALG8
  hgvsc: ENST00000527099.1:c.214+24A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000299626
  ensembl transcript: ENST00000299626
  gene symbol: ALG8
  hgvsc: ENST00000299626.5:c.478+24A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435467
  ensembl transcript: ENST00000525755
  gene symbol: ALG8
  hgvsc: ENST00000525755.1:c.325+24A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl transcript: ENST00000532552
  gene symbol: ALG8
  hgvsc: ENST00000532552.2:n.122-11460A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435626
  ensembl transcript: ENST00000532306
  gene symbol: ALG8
  hgvsc: ENST00000532306.1:c.99+24A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435417
  ensembl transcript: ENST00000525870
  gene symbol: ALG8
  hgvsc: ENST00000525870.1:c.214+24A>G
  variant of: http://identifiers.org/hgnc/23161
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

11-77832092-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77832092
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 77832092
    reference: chr 11
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435467
  ensembl transcript: ENST00000525755
  gene symbol: ALG8
  hgvsc: ENST00000525755.1:c.325+19G>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl transcript: ENST00000532552
  gene symbol: ALG8
  hgvsc: ENST00000532552.2:n.122-11465G>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000365326
  ensembl transcript: ENST00000376156
  gene symbol: ALG8
  hgvsc: ENST00000376156.3:c.478+19G>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000437199
  ensembl transcript: ENST00000532050
  gene symbol: ALG8
  hgvsc: ENST00000532050.1:c.478+19G>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000299626
  ensembl transcript: ENST00000299626
  gene symbol: ALG8
  hgvsc: ENST00000299626.5:c.478+19G>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435626
  ensembl transcript: ENST00000532306
  gene symbol: ALG8
  hgvsc: ENST00000532306.1:c.99+19G>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000432953
  ensembl transcript: ENST00000529139
  gene symbol: ALG8
  hgvsc: ENST00000529139.1:c.12+19G>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436064
  ensembl transcript: ENST00000527099
  gene symbol: ALG8
  hgvsc: ENST00000527099.1:c.214+19G>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000434660
  ensembl transcript: ENST00000530454
  gene symbol: ALG8
  hgvsc: ENST00000530454.1:c.481+19G>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435417
  ensembl transcript: ENST00000525870
  gene symbol: ALG8
  hgvsc: ENST00000525870.1:c.214+19G>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436366
  ensembl transcript: ENST00000526737
  gene symbol: ALG8
  hgvsc: ENST00000526737.1:c.*110+19G>A
  variant of: http://identifiers.org/hgnc/23161
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9986
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13034
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

11-77832094-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77832094
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 77832094
    reference: chr 11
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436064
  ensembl transcript: ENST00000527099
  gene symbol: ALG8
  hgvsc: ENST00000527099.1:c.214+17A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435626
  ensembl transcript: ENST00000532306
  gene symbol: ALG8
  hgvsc: ENST00000532306.1:c.99+17A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000299626
  ensembl transcript: ENST00000299626
  gene symbol: ALG8
  hgvsc: ENST00000299626.5:c.478+17A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000365326
  ensembl transcript: ENST00000376156
  gene symbol: ALG8
  hgvsc: ENST00000376156.3:c.478+17A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435467
  ensembl transcript: ENST00000525755
  gene symbol: ALG8
  hgvsc: ENST00000525755.1:c.325+17A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000432953
  ensembl transcript: ENST00000529139
  gene symbol: ALG8
  hgvsc: ENST00000529139.1:c.12+17A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000434660
  ensembl transcript: ENST00000530454
  gene symbol: ALG8
  hgvsc: ENST00000530454.1:c.481+17A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl transcript: ENST00000532552
  gene symbol: ALG8
  hgvsc: ENST00000532552.2:n.122-11467A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436366
  ensembl transcript: ENST00000526737
  gene symbol: ALG8
  hgvsc: ENST00000526737.1:c.*110+17A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435417
  ensembl transcript: ENST00000525870
  gene symbol: ALG8
  hgvsc: ENST00000525870.1:c.214+17A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000437199
  ensembl transcript: ENST00000532050
  gene symbol: ALG8
  hgvsc: ENST00000532050.1:c.478+17A>G
  variant of: http://identifiers.org/hgnc/23161
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9989
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13047
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum

http://identifiers.org/exac.variant/11-77832102-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77832102
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 77832102
    reference: chr 11
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000432953
  ensembl transcript: ENST00000529139
  gene symbol: ALG8
  hgvsc: ENST00000529139.1:c.12+9G>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl transcript: ENST00000532552
  gene symbol: ALG8
  hgvsc: ENST00000532552.2:n.122-11475G>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000434660
  ensembl transcript: ENST00000530454
  gene symbol: ALG8
  hgvsc: ENST00000530454.1:c.481+9G>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000365326
  ensembl transcript: ENST00000376156
  gene symbol: ALG8
  hgvsc: ENST00000376156.3:c.478+9G>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000437199
  ensembl transcript: ENST00000532050
  gene symbol: ALG8
  hgvsc: ENST00000532050.1:c.478+9G>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435626
  ensembl transcript: ENST00000532306
  gene symbol: ALG8
  hgvsc: ENST00000532306.1:c.99+9G>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436064
  ensembl transcript: ENST00000527099
  gene symbol: ALG8
  hgvsc: ENST00000527099.1:c.214+9G>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000299626
  ensembl transcript: ENST00000299626
  gene symbol: ALG8
  hgvsc: ENST00000299626.5:c.478+9G>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435467
  ensembl transcript: ENST00000525755
  gene symbol: ALG8
  hgvsc: ENST00000525755.1:c.325+9G>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435417
  ensembl transcript: ENST00000525870
  gene symbol: ALG8
  hgvsc: ENST00000525870.1:c.214+9G>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436366
  ensembl transcript: ENST00000526737
  gene symbol: ALG8
  hgvsc: ENST00000526737.1:c.*110+9G>T
  variant of: http://identifiers.org/hgnc/23161
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26531
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9994
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

11-77832108-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77832108
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 77832108
    reference: chr 11
allele count: 3
allele frequency: 2.472595400972554e-5
allele num: 121330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000434660
  ensembl transcript: ENST00000530454
  gene symbol: ALG8
  hgvsc: ENST00000530454.1:c.481+3A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436366
  ensembl transcript: ENST00000526737
  gene symbol: ALG8
  hgvsc: ENST00000526737.1:c.*110+3A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000299626
  ensembl transcript: ENST00000299626
  gene symbol: ALG8
  hgvsc: ENST00000299626.5:c.478+3A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436064
  ensembl transcript: ENST00000527099
  gene symbol: ALG8
  hgvsc: ENST00000527099.1:c.214+3A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000365326
  ensembl transcript: ENST00000376156
  gene symbol: ALG8
  hgvsc: ENST00000376156.3:c.478+3A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000437199
  ensembl transcript: ENST00000532050
  gene symbol: ALG8
  hgvsc: ENST00000532050.1:c.478+3A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435417
  ensembl transcript: ENST00000525870
  gene symbol: ALG8
  hgvsc: ENST00000525870.1:c.214+3A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000432953
  ensembl transcript: ENST00000529139
  gene symbol: ALG8
  hgvsc: ENST00000529139.1:c.12+3A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl transcript: ENST00000532552
  gene symbol: ALG8
  hgvsc: ENST00000532552.2:n.122-11481A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435626
  ensembl transcript: ENST00000532306
  gene symbol: ALG8
  hgvsc: ENST00000532306.1:c.99+3A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435467
  ensembl transcript: ENST00000525755
  gene symbol: ALG8
  hgvsc: ENST00000525755.1:c.325+3A>G
  variant of: http://identifiers.org/hgnc/23161
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9997
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13124
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.478+3A>G
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD

11-77832110-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77832110
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 77832110
    reference: chr 11
allele count: 22
allele frequency: 1.813206738535588e-4
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435417
  ensembl transcript: ENST00000525870
  gene symbol: ALG8
  hgvsc: ENST00000525870.1:c.214+1G>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436366
  ensembl transcript: ENST00000526737
  gene symbol: ALG8
  hgvsc: ENST00000526737.1:c.*110+1G>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436064
  ensembl transcript: ENST00000527099
  gene symbol: ALG8
  hgvsc: ENST00000527099.1:c.214+1G>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435626
  ensembl transcript: ENST00000532306
  gene symbol: ALG8
  hgvsc: ENST00000532306.1:c.99+1G>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000437199
  ensembl transcript: ENST00000532050
  gene symbol: ALG8
  hgvsc: ENST00000532050.1:c.478+1G>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000434660
  ensembl transcript: ENST00000530454
  gene symbol: ALG8
  hgvsc: ENST00000530454.1:c.481+1G>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435467
  ensembl transcript: ENST00000525755
  gene symbol: ALG8
  hgvsc: ENST00000525755.1:c.325+1G>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000365326
  ensembl transcript: ENST00000376156
  gene symbol: ALG8
  hgvsc: ENST00000376156.3:c.478+1G>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000299626
  ensembl transcript: ENST00000299626
  gene symbol: ALG8
  hgvsc: ENST00000299626.5:c.478+1G>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000432953
  ensembl transcript: ENST00000529139
  gene symbol: ALG8
  hgvsc: ENST00000529139.1:c.12+1G>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl transcript: ENST00000532552
  gene symbol: ALG8
  hgvsc: ENST00000532552.2:n.122-11483G>A
  variant of: http://identifiers.org/hgnc/23161
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9993
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
hgvs: c.478+1G>A
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

11-77832111-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77832111
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 77832111
    reference: chr 11
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436064
  ensembl transcript: ENST00000527099
  gene symbol: ALG8
  hgvsc: ENST00000527099.1:c.214C>T
  hgvsp: ENSP00000436064.1:p.His72Tyr
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl transcript: ENST00000532552
  gene symbol: ALG8
  hgvsc: ENST00000532552.2:n.122-11484C>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000299626
  ensembl transcript: ENST00000299626
  gene symbol: ALG8
  hgvsc: ENST00000299626.5:c.478C>T
  hgvsp: ENSP00000299626.5:p.His160Tyr
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435467
  ensembl transcript: ENST00000525755
  gene symbol: ALG8
  hgvsc: ENST00000525755.1:c.325C>T
  hgvsp: ENSP00000435467.1:p.His109Tyr
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435417
  ensembl transcript: ENST00000525870
  gene symbol: ALG8
  hgvsc: ENST00000525870.1:c.214C>T
  hgvsp: ENSP00000435417.1:p.His72Tyr
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435626
  ensembl transcript: ENST00000532306
  gene symbol: ALG8
  hgvsc: ENST00000532306.1:c.99C>T
  hgvsp: ENSP00000435626.1:p.His34Tyr
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000365326
  ensembl transcript: ENST00000376156
  gene symbol: ALG8
  hgvsc: ENST00000376156.3:c.478C>T
  hgvsp: ENSP00000365326.3:p.His160Tyr
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000437199
  ensembl transcript: ENST00000532050
  gene symbol: ALG8
  hgvsc: ENST00000532050.1:c.478C>T
  hgvsp: ENSP00000437199.1:p.His160Tyr
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000434660
  ensembl transcript: ENST00000530454
  gene symbol: ALG8
  hgvsc: ENST00000530454.1:c.481C>T
  hgvsp: ENSP00000434660.1:p.His161Tyr
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000432953
  ensembl transcript: ENST00000529139
  gene symbol: ALG8
  hgvsc: ENST00000529139.1:c.12C>T
  hgvsp: ENSP00000432953.1:p.His5Tyr
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436366
  ensembl transcript: ENST00000526737
  gene symbol: ALG8
  hgvsc: ENST00000526737.1:c.*110C>T
  variant of: http://identifiers.org/hgnc/23161
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26563
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9994
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13136
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His160Tyr
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

11-77832124-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77832124
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 77832124
    reference: chr 11
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436064
  ensembl transcript: ENST00000527099
  gene symbol: ALG8
  hgvsc: ENST00000527099.1:c.201A>G
  hgvsp: ENST00000527099.1:c.201A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436366
  ensembl transcript: ENST00000526737
  gene symbol: ALG8
  hgvsc: ENST00000526737.1:c.*97A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435417
  ensembl transcript: ENST00000525870
  gene symbol: ALG8
  hgvsc: ENST00000525870.1:c.201A>G
  hgvsp: ENST00000525870.1:c.201A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000437199
  ensembl transcript: ENST00000532050
  gene symbol: ALG8
  hgvsc: ENST00000532050.1:c.465A>G
  hgvsp: ENST00000532050.1:c.465A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435467
  ensembl transcript: ENST00000525755
  gene symbol: ALG8
  hgvsc: ENST00000525755.1:c.312A>G
  hgvsp: ENST00000525755.1:c.312A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000299626
  ensembl transcript: ENST00000299626
  gene symbol: ALG8
  hgvsc: ENST00000299626.5:c.465A>G
  hgvsp: ENST00000299626.5:c.465A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435626
  ensembl transcript: ENST00000532306
  gene symbol: ALG8
  hgvsc: ENST00000532306.1:c.86A>G
  hgvsp: ENST00000532306.1:c.86A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000434660
  ensembl transcript: ENST00000530454
  gene symbol: ALG8
  hgvsc: ENST00000530454.1:c.468A>G
  hgvsp: ENST00000530454.1:c.468A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000365326
  ensembl transcript: ENST00000376156
  gene symbol: ALG8
  hgvsc: ENST00000376156.3:c.465A>G
  hgvsp: ENST00000376156.3:c.465A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl transcript: ENST00000532552
  gene symbol: ALG8
  hgvsc: ENST00000532552.2:n.122-11497A>G
  variant of: http://identifiers.org/hgnc/23161
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu155Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

11-77832129-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77832129
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 77832129
    reference: chr 11
allele count: 2
allele frequency: 1.648179585647652e-5
allele num: 121346
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436366
  ensembl transcript: ENST00000526737
  gene symbol: ALG8
  hgvsc: ENST00000526737.1:c.*92G>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435417
  ensembl transcript: ENST00000525870
  gene symbol: ALG8
  hgvsc: ENST00000525870.1:c.196G>A
  hgvsp: ENSP00000435417.1:p.Gly66Arg
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000299626
  ensembl transcript: ENST00000299626
  gene symbol: ALG8
  hgvsc: ENST00000299626.5:c.460G>A
  hgvsp: ENSP00000299626.5:p.Gly154Arg
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000434660
  ensembl transcript: ENST00000530454
  gene symbol: ALG8
  hgvsc: ENST00000530454.1:c.463G>A
  hgvsp: ENSP00000434660.1:p.Gly155Arg
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000365326
  ensembl transcript: ENST00000376156
  gene symbol: ALG8
  hgvsc: ENST00000376156.3:c.460G>A
  hgvsp: ENSP00000365326.3:p.Gly154Arg
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl transcript: ENST00000532552
  gene symbol: ALG8
  hgvsc: ENST00000532552.2:n.122-11502G>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435626
  ensembl transcript: ENST00000532306
  gene symbol: ALG8
  hgvsc: ENST00000532306.1:c.81G>A
  hgvsp: ENSP00000435626.1:p.Gly28Arg
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436064
  ensembl transcript: ENST00000527099
  gene symbol: ALG8
  hgvsc: ENST00000527099.1:c.196G>A
  hgvsp: ENSP00000436064.1:p.Gly66Arg
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000437199
  ensembl transcript: ENST00000532050
  gene symbol: ALG8
  hgvsc: ENST00000532050.1:c.460G>A
  hgvsp: ENSP00000437199.1:p.Gly154Arg
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435467
  ensembl transcript: ENST00000525755
  gene symbol: ALG8
  hgvsc: ENST00000525755.1:c.307G>A
  hgvsp: ENSP00000435467.1:p.Gly103Arg
  variant of: http://identifiers.org/hgnc/23161
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10001
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13148
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26594
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly154Arg
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

11-77832130-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77832130
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 77832130
    reference: chr 11
allele count: 17
allele frequency: 1.400860293027012e-4
allele num: 121354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000437199
  ensembl transcript: ENST00000532050
  gene symbol: ALG8
  hgvsc: ENST00000532050.1:c.459C>T
  hgvsp: ENST00000532050.1:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000434660
  ensembl transcript: ENST00000530454
  gene symbol: ALG8
  hgvsc: ENST00000530454.1:c.462C>T
  hgvsp: ENST00000530454.1:c.462C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435626
  ensembl transcript: ENST00000532306
  gene symbol: ALG8
  hgvsc: ENST00000532306.1:c.80C>T
  hgvsp: ENST00000532306.1:c.80C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl transcript: ENST00000532552
  gene symbol: ALG8
  hgvsc: ENST00000532552.2:n.122-11503C>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435417
  ensembl transcript: ENST00000525870
  gene symbol: ALG8
  hgvsc: ENST00000525870.1:c.195C>T
  hgvsp: ENST00000525870.1:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436366
  ensembl transcript: ENST00000526737
  gene symbol: ALG8
  hgvsc: ENST00000526737.1:c.*91C>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000299626
  ensembl transcript: ENST00000299626
  gene symbol: ALG8
  hgvsc: ENST00000299626.5:c.459C>T
  hgvsp: ENST00000299626.5:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436064
  ensembl transcript: ENST00000527099
  gene symbol: ALG8
  hgvsc: ENST00000527099.1:c.195C>T
  hgvsp: ENST00000527099.1:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000365326
  ensembl transcript: ENST00000376156
  gene symbol: ALG8
  hgvsc: ENST00000376156.3:c.459C>T
  hgvsp: ENST00000376156.3:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435467
  ensembl transcript: ENST00000525755
  gene symbol: ALG8
  hgvsc: ENST00000525755.1:c.306C>T
  hgvsp: ENST00000525755.1:c.306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9999
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Phe153Phe
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

11-77832134-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77832134
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 77832134
    reference: chr 11
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435467
  ensembl transcript: ENST00000525755
  gene symbol: ALG8
  hgvsc: ENST00000525755.1:c.302A>T
  hgvsp: ENSP00000435467.1:p.Asn101Ile
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl transcript: ENST00000532552
  gene symbol: ALG8
  hgvsc: ENST00000532552.2:n.122-11507A>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435417
  ensembl transcript: ENST00000525870
  gene symbol: ALG8
  hgvsc: ENST00000525870.1:c.191A>T
  hgvsp: ENSP00000435417.1:p.Asn64Ile
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436064
  ensembl transcript: ENST00000527099
  gene symbol: ALG8
  hgvsc: ENST00000527099.1:c.191A>T
  hgvsp: ENSP00000436064.1:p.Asn64Ile
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435626
  ensembl transcript: ENST00000532306
  gene symbol: ALG8
  hgvsc: ENST00000532306.1:c.76A>T
  hgvsp: ENSP00000435626.1:p.Asn26Ile
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000434660
  ensembl transcript: ENST00000530454
  gene symbol: ALG8
  hgvsc: ENST00000530454.1:c.458A>T
  hgvsp: ENSP00000434660.1:p.Asn153Ile
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436366
  ensembl transcript: ENST00000526737
  gene symbol: ALG8
  hgvsc: ENST00000526737.1:c.*87A>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000437199
  ensembl transcript: ENST00000532050
  gene symbol: ALG8
  hgvsc: ENST00000532050.1:c.455A>T
  hgvsp: ENSP00000437199.1:p.Asn152Ile
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000299626
  ensembl transcript: ENST00000299626
  gene symbol: ALG8
  hgvsc: ENST00000299626.5:c.455A>T
  hgvsp: ENSP00000299626.5:p.Asn152Ile
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000365326
  ensembl transcript: ENST00000376156
  gene symbol: ALG8
  hgvsc: ENST00000376156.3:c.455A>T
  hgvsp: ENSP00000365326.3:p.Asn152Ile
  variant of: http://identifiers.org/hgnc/23161
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13160
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10001
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26609
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn152Ile
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

11-77832139-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77832139
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 77832139
    reference: chr 11
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435417
  ensembl transcript: ENST00000525870
  gene symbol: ALG8
  hgvsc: ENST00000525870.1:c.186G>A
  hgvsp: ENST00000525870.1:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000434660
  ensembl transcript: ENST00000530454
  gene symbol: ALG8
  hgvsc: ENST00000530454.1:c.453G>A
  hgvsp: ENST00000530454.1:c.453G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436064
  ensembl transcript: ENST00000527099
  gene symbol: ALG8
  hgvsc: ENST00000527099.1:c.186G>A
  hgvsp: ENST00000527099.1:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436366
  ensembl transcript: ENST00000526737
  gene symbol: ALG8
  hgvsc: ENST00000526737.1:c.*82G>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435467
  ensembl transcript: ENST00000525755
  gene symbol: ALG8
  hgvsc: ENST00000525755.1:c.297G>A
  hgvsp: ENST00000525755.1:c.297G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000437199
  ensembl transcript: ENST00000532050
  gene symbol: ALG8
  hgvsc: ENST00000532050.1:c.450G>A
  hgvsp: ENST00000532050.1:c.450G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435626
  ensembl transcript: ENST00000532306
  gene symbol: ALG8
  hgvsc: ENST00000532306.1:c.71G>A
  hgvsp: ENST00000532306.1:c.71G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000299626
  ensembl transcript: ENST00000299626
  gene symbol: ALG8
  hgvsc: ENST00000299626.5:c.450G>A
  hgvsp: ENST00000299626.5:c.450G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000365326
  ensembl transcript: ENST00000376156
  gene symbol: ALG8
  hgvsc: ENST00000376156.3:c.450G>A
  hgvsp: ENST00000376156.3:c.450G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl transcript: ENST00000532552
  gene symbol: ALG8
  hgvsc: ENST00000532552.2:n.122-11512G>A
  variant of: http://identifiers.org/hgnc/23161
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2074
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu150Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/11-77832143-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77832143
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 77832143
    reference: chr 11
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000434660
  ensembl transcript: ENST00000530454
  gene symbol: ALG8
  hgvsc: ENST00000530454.1:c.449T>G
  hgvsp: ENSP00000434660.1:p.Leu150Arg
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000299626
  ensembl transcript: ENST00000299626
  gene symbol: ALG8
  hgvsc: ENST00000299626.5:c.446T>G
  hgvsp: ENSP00000299626.5:p.Leu149Arg
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435626
  ensembl transcript: ENST00000532306
  gene symbol: ALG8
  hgvsc: ENST00000532306.1:c.67T>G
  hgvsp: ENSP00000435626.1:p.Leu23Arg
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000437199
  ensembl transcript: ENST00000532050
  gene symbol: ALG8
  hgvsc: ENST00000532050.1:c.446T>G
  hgvsp: ENSP00000437199.1:p.Leu149Arg
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436064
  ensembl transcript: ENST00000527099
  gene symbol: ALG8
  hgvsc: ENST00000527099.1:c.182T>G
  hgvsp: ENSP00000436064.1:p.Leu61Arg
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435417
  ensembl transcript: ENST00000525870
  gene symbol: ALG8
  hgvsc: ENST00000525870.1:c.182T>G
  hgvsp: ENSP00000435417.1:p.Leu61Arg
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000365326
  ensembl transcript: ENST00000376156
  gene symbol: ALG8
  hgvsc: ENST00000376156.3:c.446T>G
  hgvsp: ENSP00000365326.3:p.Leu149Arg
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl transcript: ENST00000532552
  gene symbol: ALG8
  hgvsc: ENST00000532552.2:n.122-11516T>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436366
  ensembl transcript: ENST00000526737
  gene symbol: ALG8
  hgvsc: ENST00000526737.1:c.*78T>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435467
  ensembl transcript: ENST00000525755
  gene symbol: ALG8
  hgvsc: ENST00000525755.1:c.293T>G
  hgvsp: ENSP00000435467.1:p.Leu98Arg
  variant of: http://identifiers.org/hgnc/23161
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38101
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu149Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

11-77832143-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77832143
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 77832143
    reference: chr 11
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000434660
  ensembl transcript: ENST00000530454
  gene symbol: ALG8
  hgvsc: ENST00000530454.1:c.449T>A
  hgvsp: ENSP00000434660.1:p.Leu150His
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435417
  ensembl transcript: ENST00000525870
  gene symbol: ALG8
  hgvsc: ENST00000525870.1:c.182T>A
  hgvsp: ENSP00000435417.1:p.Leu61His
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436064
  ensembl transcript: ENST00000527099
  gene symbol: ALG8
  hgvsc: ENST00000527099.1:c.182T>A
  hgvsp: ENSP00000436064.1:p.Leu61His
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000437199
  ensembl transcript: ENST00000532050
  gene symbol: ALG8
  hgvsc: ENST00000532050.1:c.446T>A
  hgvsp: ENSP00000437199.1:p.Leu149His
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000365326
  ensembl transcript: ENST00000376156
  gene symbol: ALG8
  hgvsc: ENST00000376156.3:c.446T>A
  hgvsp: ENSP00000365326.3:p.Leu149His
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000299626
  ensembl transcript: ENST00000299626
  gene symbol: ALG8
  hgvsc: ENST00000299626.5:c.446T>A
  hgvsp: ENSP00000299626.5:p.Leu149His
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435467
  ensembl transcript: ENST00000525755
  gene symbol: ALG8
  hgvsc: ENST00000525755.1:c.293T>A
  hgvsp: ENSP00000435467.1:p.Leu98His
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435626
  ensembl transcript: ENST00000532306
  gene symbol: ALG8
  hgvsc: ENST00000532306.1:c.67T>A
  hgvsp: ENSP00000435626.1:p.Leu23His
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl transcript: ENST00000532552
  gene symbol: ALG8
  hgvsc: ENST00000532552.2:n.122-11516T>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436366
  ensembl transcript: ENST00000526737
  gene symbol: ALG8
  hgvsc: ENST00000526737.1:c.*78T>A
  variant of: http://identifiers.org/hgnc/23161
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu149His
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

11-77832146-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77832146
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 77832146
    reference: chr 11
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000365326
  ensembl transcript: ENST00000376156
  gene symbol: ALG8
  hgvsc: ENST00000376156.3:c.443T>A
  hgvsp: ENSP00000365326.3:p.Leu148Ter
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436064
  ensembl transcript: ENST00000527099
  gene symbol: ALG8
  hgvsc: ENST00000527099.1:c.179T>A
  hgvsp: ENSP00000436064.1:p.Leu60Ter
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435626
  ensembl transcript: ENST00000532306
  gene symbol: ALG8
  hgvsc: ENST00000532306.1:c.64T>A
  hgvsp: ENSP00000435626.1:p.Leu22Ter
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435467
  ensembl transcript: ENST00000525755
  gene symbol: ALG8
  hgvsc: ENST00000525755.1:c.290T>A
  hgvsp: ENSP00000435467.1:p.Leu97Ter
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436366
  ensembl transcript: ENST00000526737
  gene symbol: ALG8
  hgvsc: ENST00000526737.1:c.*75T>A
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000299626
  ensembl transcript: ENST00000299626
  gene symbol: ALG8
  hgvsc: ENST00000299626.5:c.443T>A
  hgvsp: ENSP00000299626.5:p.Leu148Ter
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000434660
  ensembl transcript: ENST00000530454
  gene symbol: ALG8
  hgvsc: ENST00000530454.1:c.446T>A
  hgvsp: ENSP00000434660.1:p.Leu149Ter
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000437199
  ensembl transcript: ENST00000532050
  gene symbol: ALG8
  hgvsc: ENST00000532050.1:c.443T>A
  hgvsp: ENSP00000437199.1:p.Leu148Ter
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435417
  ensembl transcript: ENST00000525870
  gene symbol: ALG8
  hgvsc: ENST00000525870.1:c.179T>A
  hgvsp: ENSP00000435417.1:p.Leu60Ter
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl transcript: ENST00000532552
  gene symbol: ALG8
  hgvsc: ENST00000532552.2:n.122-11519T>A
  variant of: http://identifiers.org/hgnc/23161
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13157
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu148Ter
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

11-77832148-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77832148
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 77832148
    reference: chr 11
allele count: 49
allele frequency: 4.037241492955426e-4
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435467
  ensembl transcript: ENST00000525755
  gene symbol: ALG8
  hgvsc: ENST00000525755.1:c.288A>T
  hgvsp: ENST00000525755.1:c.288A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435417
  ensembl transcript: ENST00000525870
  gene symbol: ALG8
  hgvsc: ENST00000525870.1:c.177A>T
  hgvsp: ENST00000525870.1:c.177A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl transcript: ENST00000532552
  gene symbol: ALG8
  hgvsc: ENST00000532552.2:n.122-11521A>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000434660
  ensembl transcript: ENST00000530454
  gene symbol: ALG8
  hgvsc: ENST00000530454.1:c.444A>T
  hgvsp: ENST00000530454.1:c.444A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000365326
  ensembl transcript: ENST00000376156
  gene symbol: ALG8
  hgvsc: ENST00000376156.3:c.441A>T
  hgvsp: ENST00000376156.3:c.441A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436366
  ensembl transcript: ENST00000526737
  gene symbol: ALG8
  hgvsc: ENST00000526737.1:c.*73A>T
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436064
  ensembl transcript: ENST00000527099
  gene symbol: ALG8
  hgvsc: ENST00000527099.1:c.177A>T
  hgvsp: ENST00000527099.1:c.177A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000299626
  ensembl transcript: ENST00000299626
  gene symbol: ALG8
  hgvsc: ENST00000299626.5:c.441A>T
  hgvsp: ENST00000299626.5:c.441A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000437199
  ensembl transcript: ENST00000532050
  gene symbol: ALG8
  hgvsc: ENST00000532050.1:c.441A>T
  hgvsp: ENST00000532050.1:c.441A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435626
  ensembl transcript: ENST00000532306
  gene symbol: ALG8
  hgvsc: ENST00000532306.1:c.62A>T
  hgvsp: ENST00000532306.1:c.62A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 9.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9994
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26618
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val147Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-77832148-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77832148
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 77832148
    reference: chr 11
allele count: 5
allele frequency: 4.119634176485128e-5
allele num: 121370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000365326
  ensembl transcript: ENST00000376156
  gene symbol: ALG8
  hgvsc: ENST00000376156.3:c.441A>G
  hgvsp: ENST00000376156.3:c.441A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000434660
  ensembl transcript: ENST00000530454
  gene symbol: ALG8
  hgvsc: ENST00000530454.1:c.444A>G
  hgvsp: ENST00000530454.1:c.444A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159063
  ensembl transcript: ENST00000532552
  gene symbol: ALG8
  hgvsc: ENST00000532552.2:n.122-11521A>G
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436064
  ensembl transcript: ENST00000527099
  gene symbol: ALG8
  hgvsc: ENST00000527099.1:c.177A>G
  hgvsp: ENST00000527099.1:c.177A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000299626
  ensembl transcript: ENST00000299626
  gene symbol: ALG8
  hgvsc: ENST00000299626.5:c.441A>G
  hgvsp: ENST00000299626.5:c.441A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435467
  ensembl transcript: ENST00000525755
  gene symbol: ALG8
  hgvsc: ENST00000525755.1:c.288A>G
  hgvsp: ENST00000525755.1:c.288A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000437199
  ensembl transcript: ENST00000532050
  gene symbol: ALG8
  hgvsc: ENST00000532050.1:c.441A>G
  hgvsp: ENST00000532050.1:c.441A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435417
  ensembl transcript: ENST00000525870
  gene symbol: ALG8
  hgvsc: ENST00000525870.1:c.177A>G
  hgvsp: ENST00000525870.1:c.177A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000435626
  ensembl transcript: ENST00000532306
  gene symbol: ALG8
  hgvsc: ENST00000532306.1:c.62A>G
  hgvsp: ENST00000532306.1:c.62A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159063
  ensembl protein: ENSP00000436366
  ensembl transcript: ENST00000526737
  gene symbol: ALG8
  hgvsc: ENST00000526737.1:c.*73A>G
  variant of: http://identifiers.org/hgnc/23161
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9994
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26618
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val147Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD

9-136313876-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136313876
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 136313876
    reference: chr 9
allele count: 1
allele frequency: 9.460200934667853e-6
allele num: 105706
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000444504
  ensembl transcript: ENST00000536611
  gene symbol: ADAMTS13
  hgvsc: ENST00000536611.1:c.*330+27C>G
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000435274
  ensembl transcript: ENST00000495234
  gene symbol: ADAMTS13
  hgvsc: ENST00000495234.1:c.*1693+27C>G
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl transcript: ENST00000485925
  gene symbol: ADAMTS13
  hgvsc: ENST00000485925.1:n.1677+27C>G
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360984
  ensembl transcript: ENST00000371916
  gene symbol: ADAMTS13
  hgvsc: ENST00000371916.1:c.*1729+27C>G
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360997
  ensembl transcript: ENST00000371929
  gene symbol: ADAMTS13
  hgvsc: ENST00000371929.3:c.2861+27C>G
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000347927
  ensembl transcript: ENST00000355699
  gene symbol: ADAMTS13
  hgvsc: ENST00000355699.2:c.2861+27C>G
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000348997
  ensembl transcript: ENST00000356589
  gene symbol: ADAMTS13
  hgvsc: ENST00000356589.2:c.2768+27C>G
  variant of: http://identifiers.org/hgnc/1366
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6328
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3685
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5519
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17962
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6833
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4366
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5231
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2654
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15798
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17256
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ

9-136313877-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136313877
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 136313877
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 105870
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360997
  ensembl transcript: ENST00000371929
  gene symbol: ADAMTS13
  hgvsc: ENST00000371929.3:c.2861+28T>C
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000348997
  ensembl transcript: ENST00000356589
  gene symbol: ADAMTS13
  hgvsc: ENST00000356589.2:c.2768+28T>C
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000444504
  ensembl transcript: ENST00000536611
  gene symbol: ADAMTS13
  hgvsc: ENST00000536611.1:c.*330+28T>C
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl transcript: ENST00000485925
  gene symbol: ADAMTS13
  hgvsc: ENST00000485925.1:n.1677+28T>C
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000347927
  ensembl transcript: ENST00000355699
  gene symbol: ADAMTS13
  hgvsc: ENST00000355699.2:c.2861+28T>C
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360984
  ensembl transcript: ENST00000371916
  gene symbol: ADAMTS13
  hgvsc: ENST00000371916.1:c.*1729+28T>C
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000435274
  ensembl transcript: ENST00000495234
  gene symbol: ADAMTS13
  hgvsc: ENST00000495234.1:c.*1693+28T>C
  variant of: http://identifiers.org/hgnc/1366
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18009
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6381
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5437
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5229
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17690
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15949
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

9-136313888-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136313888
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 136313888
    reference: chr 9
allele count: 7
allele frequency: 6.894378127092936e-5
allele num: 101532
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360997
  ensembl transcript: ENST00000371929
  gene symbol: ADAMTS13
  hgvsc: ENST00000371929.3:c.2861+39C>T
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl transcript: ENST00000485925
  gene symbol: ADAMTS13
  hgvsc: ENST00000485925.1:n.1677+39C>T
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000444504
  ensembl transcript: ENST00000536611
  gene symbol: ADAMTS13
  hgvsc: ENST00000536611.1:c.*330+39C>T
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000348997
  ensembl transcript: ENST00000356589
  gene symbol: ADAMTS13
  hgvsc: ENST00000356589.2:c.2768+39C>T
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360984
  ensembl transcript: ENST00000371916
  gene symbol: ADAMTS13
  hgvsc: ENST00000371916.1:c.*1729+39C>T
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000435274
  ensembl transcript: ENST00000495234
  gene symbol: ADAMTS13
  hgvsc: ENST00000495234.1:c.*1693+39C>T
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000347927
  ensembl transcript: ENST00000355699
  gene symbol: ADAMTS13
  hgvsc: ENST00000355699.2:c.2861+39C>T
  variant of: http://identifiers.org/hgnc/1366
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4532
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7714
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19205
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11964
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5351
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15551
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

9-136313898-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136313898
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 136313898
    reference: chr 9
allele count: 2
allele frequency: 2.099561191710932e-5
allele num: 95258
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000348997
  ensembl transcript: ENST00000356589
  gene symbol: ADAMTS13
  hgvsc: ENST00000356589.2:c.2768+49G>A
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000444504
  ensembl transcript: ENST00000536611
  gene symbol: ADAMTS13
  hgvsc: ENST00000536611.1:c.*330+49G>A
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360984
  ensembl transcript: ENST00000371916
  gene symbol: ADAMTS13
  hgvsc: ENST00000371916.1:c.*1729+49G>A
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000435274
  ensembl transcript: ENST00000495234
  gene symbol: ADAMTS13
  hgvsc: ENST00000495234.1:c.*1693+49G>A
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000347927
  ensembl transcript: ENST00000355699
  gene symbol: ADAMTS13
  hgvsc: ENST00000355699.2:c.2861+49G>A
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl transcript: ENST00000485925
  gene symbol: ADAMTS13
  hgvsc: ENST00000485925.1:n.1677+49G>A
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360997
  ensembl transcript: ENST00000371929
  gene symbol: ADAMTS13
  hgvsc: ENST00000371929.3:c.2861+49G>A
  variant of: http://identifiers.org/hgnc/1366
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12999
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17305
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2389
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5405
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5510
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2084
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3379
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

9-136313901-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136313901
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 136313901
    reference: chr 9
allele count: 1
allele frequency: 1.082344791756862e-5
allele num: 92392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000444504
  ensembl transcript: ENST00000536611
  gene symbol: ADAMTS13
  hgvsc: ENST00000536611.1:c.*330+52A>G
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000435274
  ensembl transcript: ENST00000495234
  gene symbol: ADAMTS13
  hgvsc: ENST00000495234.1:c.*1693+52A>G
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360984
  ensembl transcript: ENST00000371916
  gene symbol: ADAMTS13
  hgvsc: ENST00000371916.1:c.*1729+52A>G
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl transcript: ENST00000485925
  gene symbol: ADAMTS13
  hgvsc: ENST00000485925.1:n.1677+52A>G
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000347927
  ensembl transcript: ENST00000355699
  gene symbol: ADAMTS13
  hgvsc: ENST00000355699.2:c.2861+52A>G
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000348997
  ensembl transcript: ENST00000356589
  gene symbol: ADAMTS13
  hgvsc: ENST00000356589.2:c.2768+52A>G
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360997
  ensembl transcript: ENST00000371929
  gene symbol: ADAMTS13
  hgvsc: ENST00000371929.3:c.2861+52A>G
  variant of: http://identifiers.org/hgnc/1366
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12913
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10532
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2219
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2527
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10160
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2427
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3707
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7623
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

9-136314866-TGGG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136314866
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 136314863
    reference: chr 9
allele count: 5
allele frequency: 4.204224404681824e-5
allele num: 118928
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000435274
  ensembl transcript: ENST00000495234
  gene symbol: ADAMTS13
  hgvsc: ENST00000495234.1:c.*1694-36_*1694-34delGGG
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360997
  ensembl transcript: ENST00000371929
  gene symbol: ADAMTS13
  hgvsc: ENST00000371929.3:c.2862-36_2862-34delGGG
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000348997
  ensembl transcript: ENST00000356589
  gene symbol: ADAMTS13
  hgvsc: ENST00000356589.2:c.2769-36_2769-34delGGG
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360984
  ensembl transcript: ENST00000371916
  gene symbol: ADAMTS13
  hgvsc: ENST00000371916.1:c.*1730-36_*1730-34delGGG
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000347927
  ensembl transcript: ENST00000355699
  gene symbol: ADAMTS13
  hgvsc: ENST00000355699.2:c.2862-36_2862-34delGGG
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl transcript: ENST00000485925
  gene symbol: ADAMTS13
  hgvsc: ENST00000485925.1:n.1678-36_1678-34delGGG
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000444504
  ensembl transcript: ENST00000536611
  gene symbol: ADAMTS13
  hgvsc: ENST00000536611.1:c.*331-36_*331-34delGGG
  variant of: http://identifiers.org/hgnc/1366
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2532
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10000
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15531
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37086
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1962
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: TGGG
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

9-136314870-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136314870
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 136314870
    reference: chr 9
allele count: 5
allele frequency: 4.196250230793762e-5
allele num: 119154
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000444504
  ensembl transcript: ENST00000536611
  gene symbol: ADAMTS13
  hgvsc: ENST00000536611.1:c.*331-34G>A
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360984
  ensembl transcript: ENST00000371916
  gene symbol: ADAMTS13
  hgvsc: ENST00000371916.1:c.*1730-34G>A
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl transcript: ENST00000485925
  gene symbol: ADAMTS13
  hgvsc: ENST00000485925.1:n.1678-34G>A
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000347927
  ensembl transcript: ENST00000355699
  gene symbol: ADAMTS13
  hgvsc: ENST00000355699.2:c.2862-34G>A
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360997
  ensembl transcript: ENST00000371929
  gene symbol: ADAMTS13
  hgvsc: ENST00000371929.3:c.2862-34G>A
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000435274
  ensembl transcript: ENST00000495234
  gene symbol: ADAMTS13
  hgvsc: ENST00000495234.1:c.*1694-34G>A
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000348997
  ensembl transcript: ENST00000356589
  gene symbol: ADAMTS13
  hgvsc: ENST00000356589.2:c.2769-34G>A
  variant of: http://identifiers.org/hgnc/1366
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16051
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10037
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1965
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1985
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

9-136314871-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136314871
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 136314871
    reference: chr 9
allele count: 1
allele frequency: 8.390528771123156e-6
allele num: 119182
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360997
  ensembl transcript: ENST00000371929
  gene symbol: ADAMTS13
  hgvsc: ENST00000371929.3:c.2862-33C>T
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000348997
  ensembl transcript: ENST00000356589
  gene symbol: ADAMTS13
  hgvsc: ENST00000356589.2:c.2769-33C>T
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000347927
  ensembl transcript: ENST00000355699
  gene symbol: ADAMTS13
  hgvsc: ENST00000355699.2:c.2862-33C>T
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360984
  ensembl transcript: ENST00000371916
  gene symbol: ADAMTS13
  hgvsc: ENST00000371916.1:c.*1730-33C>T
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000435274
  ensembl transcript: ENST00000495234
  gene symbol: ADAMTS13
  hgvsc: ENST00000495234.1:c.*1694-33C>T
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl transcript: ENST00000485925
  gene symbol: ADAMTS13
  hgvsc: ENST00000485925.1:n.1678-33C>T
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000444504
  ensembl transcript: ENST00000536611
  gene symbol: ADAMTS13
  hgvsc: ENST00000536611.1:c.*331-33C>T
  variant of: http://identifiers.org/hgnc/1366
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16188
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10067
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1961
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1988
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

9-136314873-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136314873
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 136314873
    reference: chr 9
allele count: 1
allele frequency: 8.384900471231407e-6
allele num: 119262
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360984
  ensembl transcript: ENST00000371916
  gene symbol: ADAMTS13
  hgvsc: ENST00000371916.1:c.*1730-31G>C
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360997
  ensembl transcript: ENST00000371929
  gene symbol: ADAMTS13
  hgvsc: ENST00000371929.3:c.2862-31G>C
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000435274
  ensembl transcript: ENST00000495234
  gene symbol: ADAMTS13
  hgvsc: ENST00000495234.1:c.*1694-31G>C
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000347927
  ensembl transcript: ENST00000355699
  gene symbol: ADAMTS13
  hgvsc: ENST00000355699.2:c.2862-31G>C
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000444504
  ensembl transcript: ENST00000536611
  gene symbol: ADAMTS13
  hgvsc: ENST00000536611.1:c.*331-31G>C
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl transcript: ENST00000485925
  gene symbol: ADAMTS13
  hgvsc: ENST00000485925.1:n.1678-31G>C
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000348997
  ensembl transcript: ENST00000356589
  gene symbol: ADAMTS13
  hgvsc: ENST00000356589.2:c.2769-31G>C
  variant of: http://identifiers.org/hgnc/1366
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24805
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8110
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1956
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39642
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum

9-136314876-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136314876
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 136314876
    reference: chr 9
allele count: 1
allele frequency: 8.380122349786308e-6
allele num: 119330
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000435274
  ensembl transcript: ENST00000495234
  gene symbol: ADAMTS13
  hgvsc: ENST00000495234.1:c.*1694-28T>G
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360984
  ensembl transcript: ENST00000371916
  gene symbol: ADAMTS13
  hgvsc: ENST00000371916.1:c.*1730-28T>G
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000348997
  ensembl transcript: ENST00000356589
  gene symbol: ADAMTS13
  hgvsc: ENST00000356589.2:c.2769-28T>G
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl transcript: ENST00000485925
  gene symbol: ADAMTS13
  hgvsc: ENST00000485925.1:n.1678-28T>G
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360997
  ensembl transcript: ENST00000371929
  gene symbol: ADAMTS13
  hgvsc: ENST00000371929.3:c.2862-28T>G
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000444504
  ensembl transcript: ENST00000536611
  gene symbol: ADAMTS13
  hgvsc: ENST00000536611.1:c.*331-28T>G
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000347927
  ensembl transcript: ENST00000355699
  gene symbol: ADAMTS13
  hgvsc: ENST00000355699.2:c.2862-28T>G
  variant of: http://identifiers.org/hgnc/1366
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24892
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16808
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10070
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1990
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

9-136314892-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136314892
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 136314892
    reference: chr 9
allele count: 1
allele frequency: 8.343345347750633e-6
allele num: 119856
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360984
  ensembl transcript: ENST00000371916
  gene symbol: ADAMTS13
  hgvsc: ENST00000371916.1:c.*1730-12A>T
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360997
  ensembl transcript: ENST00000371929
  gene symbol: ADAMTS13
  hgvsc: ENST00000371929.3:c.2862-12A>T
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000444504
  ensembl transcript: ENST00000536611
  gene symbol: ADAMTS13
  hgvsc: ENST00000536611.1:c.*331-12A>T
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000435274
  ensembl transcript: ENST00000495234
  gene symbol: ADAMTS13
  hgvsc: ENST00000495234.1:c.*1694-12A>T
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl transcript: ENST00000485925
  gene symbol: ADAMTS13
  hgvsc: ENST00000485925.1:n.1678-12A>T
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000347927
  ensembl transcript: ENST00000355699
  gene symbol: ADAMTS13
  hgvsc: ENST00000355699.2:c.2862-12A>T
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000348997
  ensembl transcript: ENST00000356589
  gene symbol: ADAMTS13
  hgvsc: ENST00000356589.2:c.2769-12A>T
  variant of: http://identifiers.org/hgnc/1366
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10131
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41375
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2024
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

9-136314901-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136314901
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 136314901
    reference: chr 9
allele count: 1
allele frequency: 8.328336331534413e-6
allele num: 120072
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000444504
  ensembl transcript: ENST00000536611
  gene symbol: ADAMTS13
  hgvsc: ENST00000536611.1:c.*331-3C>T
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl transcript: ENST00000485925
  gene symbol: ADAMTS13
  hgvsc: ENST00000485925.1:n.1678-3C>T
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360984
  ensembl transcript: ENST00000371916
  gene symbol: ADAMTS13
  hgvsc: ENST00000371916.1:c.*1730-3C>T
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000435274
  ensembl transcript: ENST00000495234
  gene symbol: ADAMTS13
  hgvsc: ENST00000495234.1:c.*1694-3C>T
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000348997
  ensembl transcript: ENST00000356589
  gene symbol: ADAMTS13
  hgvsc: ENST00000356589.2:c.2769-3C>T
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000347927
  ensembl transcript: ENST00000355699
  gene symbol: ADAMTS13
  hgvsc: ENST00000355699.2:c.2862-3C>T
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360997
  ensembl transcript: ENST00000371929
  gene symbol: ADAMTS13
  hgvsc: ENST00000371929.3:c.2862-3C>T
  variant of: http://identifiers.org/hgnc/1366
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3164
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
hgvs: c.2862-3C>T
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP

9-136314912-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136314912
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 136314912
    reference: chr 9
allele count: 1
allele frequency: 8.317530026283395e-6
allele num: 120228
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000444504
  ensembl transcript: ENST00000536611
  gene symbol: ADAMTS13
  hgvsc: ENST00000536611.1:c.*339A>G
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360997
  ensembl transcript: ENST00000371929
  gene symbol: ADAMTS13
  hgvsc: ENST00000371929.3:c.2870A>G
  hgvsp: ENSP00000360997.3:p.Tyr957Cys
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000347927
  ensembl transcript: ENST00000355699
  gene symbol: ADAMTS13
  hgvsc: ENST00000355699.2:c.2870A>G
  hgvsp: ENSP00000347927.2:p.Tyr957Cys
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160323
  ensembl transcript: ENST00000485925
  gene symbol: ADAMTS13
  hgvsc: ENST00000485925.1:n.1686A>G
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000348997
  ensembl transcript: ENST00000356589
  gene symbol: ADAMTS13
  hgvsc: ENST00000356589.2:c.2777A>G
  hgvsp: ENSP00000348997.2:p.Tyr926Cys
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360984
  ensembl transcript: ENST00000371916
  gene symbol: ADAMTS13
  hgvsc: ENST00000371916.1:c.*1738A>G
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000435274
  ensembl transcript: ENST00000495234
  gene symbol: ADAMTS13
  hgvsc: ENST00000495234.1:c.*1702A>G
  variant of: http://identifiers.org/hgnc/1366
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17840
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1138
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1965
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Tyr957Cys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS

http://identifiers.org/exac.variant/9-136314921-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136314921
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 136314921
    reference: chr 9
allele count: 1
allele frequency: 8.316423272678886e-6
allele num: 120244
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360997
  ensembl transcript: ENST00000371929
  gene symbol: ADAMTS13
  hgvsc: ENST00000371929.3:c.2879C>A
  hgvsp: ENSP00000360997.3:p.Ala960Glu
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000435274
  ensembl transcript: ENST00000495234
  gene symbol: ADAMTS13
  hgvsc: ENST00000495234.1:c.*1711C>A
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360984
  ensembl transcript: ENST00000371916
  gene symbol: ADAMTS13
  hgvsc: ENST00000371916.1:c.*1747C>A
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000444504
  ensembl transcript: ENST00000536611
  gene symbol: ADAMTS13
  hgvsc: ENST00000536611.1:c.*348C>A
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000347927
  ensembl transcript: ENST00000355699
  gene symbol: ADAMTS13
  hgvsc: ENST00000355699.2:c.2879C>A
  hgvsp: ENSP00000347927.2:p.Ala960Glu
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160323
  ensembl transcript: ENST00000485925
  gene symbol: ADAMTS13
  hgvsc: ENST00000485925.1:n.1695C>A
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000348997
  ensembl transcript: ENST00000356589
  gene symbol: ADAMTS13
  hgvsc: ENST00000356589.2:c.2786C>A
  hgvsp: ENSP00000348997.2:p.Ala929Glu
  variant of: http://identifiers.org/hgnc/1366
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41803
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala960Glu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

9-136314921-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136314921
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 136314921
    reference: chr 9
allele count: 2
allele frequency: 1.663284654535777e-5
allele num: 120244
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000444504
  ensembl transcript: ENST00000536611
  gene symbol: ADAMTS13
  hgvsc: ENST00000536611.1:c.*348C>T
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160323
  ensembl transcript: ENST00000485925
  gene symbol: ADAMTS13
  hgvsc: ENST00000485925.1:n.1695C>T
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360997
  ensembl transcript: ENST00000371929
  gene symbol: ADAMTS13
  hgvsc: ENST00000371929.3:c.2879C>T
  hgvsp: ENSP00000360997.3:p.Ala960Val
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000347927
  ensembl transcript: ENST00000355699
  gene symbol: ADAMTS13
  hgvsc: ENST00000355699.2:c.2879C>T
  hgvsp: ENSP00000347927.2:p.Ala960Val
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000348997
  ensembl transcript: ENST00000356589
  gene symbol: ADAMTS13
  hgvsc: ENST00000356589.2:c.2786C>T
  hgvsp: ENSP00000348997.2:p.Ala929Val
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000435274
  ensembl transcript: ENST00000495234
  gene symbol: ADAMTS13
  hgvsc: ENST00000495234.1:c.*1711C>T
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360984
  ensembl transcript: ENST00000371916
  gene symbol: ADAMTS13
  hgvsc: ENST00000371916.1:c.*1747C>T
  variant of: http://identifiers.org/hgnc/1366
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8307
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala960Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

9-136314922-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136314922
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 136314922
    reference: chr 9
allele count: 3
allele frequency: 2.494553558064892e-5
allele num: 120262
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000348997
  ensembl transcript: ENST00000356589
  gene symbol: ADAMTS13
  hgvsc: ENST00000356589.2:c.2787G>A
  hgvsp: ENST00000356589.2:c.2787G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000444504
  ensembl transcript: ENST00000536611
  gene symbol: ADAMTS13
  hgvsc: ENST00000536611.1:c.*349G>A
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360997
  ensembl transcript: ENST00000371929
  gene symbol: ADAMTS13
  hgvsc: ENST00000371929.3:c.2880G>A
  hgvsp: ENST00000371929.3:c.2880G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160323
  ensembl transcript: ENST00000485925
  gene symbol: ADAMTS13
  hgvsc: ENST00000485925.1:n.1696G>A
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000347927
  ensembl transcript: ENST00000355699
  gene symbol: ADAMTS13
  hgvsc: ENST00000355699.2:c.2880G>A
  hgvsp: ENST00000355699.2:c.2880G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360984
  ensembl transcript: ENST00000371916
  gene symbol: ADAMTS13
  hgvsc: ENST00000371916.1:c.*1748G>A
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000435274
  ensembl transcript: ENST00000495234
  gene symbol: ADAMTS13
  hgvsc: ENST00000495234.1:c.*1712G>A
  variant of: http://identifiers.org/hgnc/1366
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25797
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41907
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2039
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1973
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala960Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

9-136314923-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136314923
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 136314923
    reference: chr 9
allele count: 1
allele frequency: 8.314625426124552e-6
allele num: 120270
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000348997
  ensembl transcript: ENST00000356589
  gene symbol: ADAMTS13
  hgvsc: ENST00000356589.2:c.2788G>T
  hgvsp: ENSP00000348997.2:p.Ala930Ser
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000444504
  ensembl transcript: ENST00000536611
  gene symbol: ADAMTS13
  hgvsc: ENST00000536611.1:c.*350G>T
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160323
  ensembl transcript: ENST00000485925
  gene symbol: ADAMTS13
  hgvsc: ENST00000485925.1:n.1697G>T
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360997
  ensembl transcript: ENST00000371929
  gene symbol: ADAMTS13
  hgvsc: ENST00000371929.3:c.2881G>T
  hgvsp: ENSP00000360997.3:p.Ala961Ser
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000347927
  ensembl transcript: ENST00000355699
  gene symbol: ADAMTS13
  hgvsc: ENST00000355699.2:c.2881G>T
  hgvsp: ENSP00000347927.2:p.Ala961Ser
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360984
  ensembl transcript: ENST00000371916
  gene symbol: ADAMTS13
  hgvsc: ENST00000371916.1:c.*1749G>T
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000435274
  ensembl transcript: ENST00000495234
  gene symbol: ADAMTS13
  hgvsc: ENST00000495234.1:c.*1713G>T
  variant of: http://identifiers.org/hgnc/1366
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10192
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8315
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala961Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

9-136314931-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136314931
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 136314931
    reference: chr 9
allele count: 6
allele frequency: 4.987697014032054e-5
allele num: 120296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000444504
  ensembl transcript: ENST00000536611
  gene symbol: ADAMTS13
  hgvsc: ENST00000536611.1:c.*358C>T
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000435274
  ensembl transcript: ENST00000495234
  gene symbol: ADAMTS13
  hgvsc: ENST00000495234.1:c.*1721C>T
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000348997
  ensembl transcript: ENST00000356589
  gene symbol: ADAMTS13
  hgvsc: ENST00000356589.2:c.2796C>T
  hgvsp: ENST00000356589.2:c.2796C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360984
  ensembl transcript: ENST00000371916
  gene symbol: ADAMTS13
  hgvsc: ENST00000371916.1:c.*1757C>T
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000347927
  ensembl transcript: ENST00000355699
  gene symbol: ADAMTS13
  hgvsc: ENST00000355699.2:c.2889C>T
  hgvsp: ENST00000355699.2:c.2889C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360997
  ensembl transcript: ENST00000371929
  gene symbol: ADAMTS13
  hgvsc: ENST00000371929.3:c.2889C>T
  hgvsp: ENST00000371929.3:c.2889C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160323
  ensembl transcript: ENST00000485925
  gene symbol: ADAMTS13
  hgvsc: ENST00000485925.1:n.1705C>T
  variant of: http://identifiers.org/hgnc/1366
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25850
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17782
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42020
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2037
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser963Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

9-136314932-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136314932
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 136314932
    reference: chr 9
allele count: 20
allele frequency: 1.662482751741451e-4
allele num: 120302
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360984
  ensembl transcript: ENST00000371916
  gene symbol: ADAMTS13
  hgvsc: ENST00000371916.1:c.*1758G>A
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000347927
  ensembl transcript: ENST00000355699
  gene symbol: ADAMTS13
  hgvsc: ENST00000355699.2:c.2890G>A
  hgvsp: ENSP00000347927.2:p.Val964Met
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000435274
  ensembl transcript: ENST00000495234
  gene symbol: ADAMTS13
  hgvsc: ENST00000495234.1:c.*1722G>A
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000444504
  ensembl transcript: ENST00000536611
  gene symbol: ADAMTS13
  hgvsc: ENST00000536611.1:c.*359G>A
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000348997
  ensembl transcript: ENST00000356589
  gene symbol: ADAMTS13
  hgvsc: ENST00000356589.2:c.2797G>A
  hgvsp: ENSP00000348997.2:p.Val933Met
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360997
  ensembl transcript: ENST00000371929
  gene symbol: ADAMTS13
  hgvsc: ENST00000371929.3:c.2890G>A
  hgvsp: ENSP00000360997.3:p.Val964Met
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160323
  ensembl transcript: ENST00000485925
  gene symbol: ADAMTS13
  hgvsc: ENST00000485925.1:n.1706G>A
  variant of: http://identifiers.org/hgnc/1366
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17775
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25850
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val964Met
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

9-136314933-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136314933
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 136314933
    reference: chr 9
allele count: 1
allele frequency: 8.312137383006666e-6
allele num: 120306
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000347927
  ensembl transcript: ENST00000355699
  gene symbol: ADAMTS13
  hgvsc: ENST00000355699.2:c.2891T>C
  hgvsp: ENSP00000347927.2:p.Val964Ala
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360984
  ensembl transcript: ENST00000371916
  gene symbol: ADAMTS13
  hgvsc: ENST00000371916.1:c.*1759T>C
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000435274
  ensembl transcript: ENST00000495234
  gene symbol: ADAMTS13
  hgvsc: ENST00000495234.1:c.*1723T>C
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360997
  ensembl transcript: ENST00000371929
  gene symbol: ADAMTS13
  hgvsc: ENST00000371929.3:c.2891T>C
  hgvsp: ENSP00000360997.3:p.Val964Ala
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160323
  ensembl transcript: ENST00000485925
  gene symbol: ADAMTS13
  hgvsc: ENST00000485925.1:n.1707T>C
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000348997
  ensembl transcript: ENST00000356589
  gene symbol: ADAMTS13
  hgvsc: ENST00000356589.2:c.2798T>C
  hgvsp: ENSP00000348997.2:p.Val933Ala
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000444504
  ensembl transcript: ENST00000536611
  gene symbol: ADAMTS13
  hgvsc: ENST00000536611.1:c.*360T>C
  variant of: http://identifiers.org/hgnc/1366
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1975
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val964Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

9-136314934-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136314934
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 136314934
    reference: chr 9
allele count: 4
allele frequency: 3.325076061114898e-5
allele num: 120298
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000444504
  ensembl transcript: ENST00000536611
  gene symbol: ADAMTS13
  hgvsc: ENST00000536611.1:c.*361G>C
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360984
  ensembl transcript: ENST00000371916
  gene symbol: ADAMTS13
  hgvsc: ENST00000371916.1:c.*1760G>C
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000347927
  ensembl transcript: ENST00000355699
  gene symbol: ADAMTS13
  hgvsc: ENST00000355699.2:c.2892G>C
  hgvsp: ENST00000355699.2:c.2892G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360997
  ensembl transcript: ENST00000371929
  gene symbol: ADAMTS13
  hgvsc: ENST00000371929.3:c.2892G>C
  hgvsp: ENST00000371929.3:c.2892G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000435274
  ensembl transcript: ENST00000495234
  gene symbol: ADAMTS13
  hgvsc: ENST00000495234.1:c.*1724G>C
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000348997
  ensembl transcript: ENST00000356589
  gene symbol: ADAMTS13
  hgvsc: ENST00000356589.2:c.2799G>C
  hgvsp: ENST00000356589.2:c.2799G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160323
  ensembl transcript: ENST00000485925
  gene symbol: ADAMTS13
  hgvsc: ENST00000485925.1:n.1708G>C
  variant of: http://identifiers.org/hgnc/1366
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25873
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8337
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2039
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val964Val
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP

9-136314943-GAGAGGGGTC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136314943
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 136314934
    reference: chr 9
allele count: 1
allele frequency: 8.312137383006666e-6
allele num: 120306
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360984
  ensembl transcript: ENST00000371916
  gene symbol: ADAMTS13
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000435274
  ensembl transcript: ENST00000495234
  gene symbol: ADAMTS13
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360997
  ensembl transcript: ENST00000371929
  gene symbol: ADAMTS13
  hgvsp: ENSP00000360997.3:p.Arg968_Val970del
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000348997
  ensembl transcript: ENST00000356589
  gene symbol: ADAMTS13
  hgvsp: ENSP00000348997.2:p.Arg937_Val939del
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000444504
  ensembl transcript: ENST00000536611
  gene symbol: ADAMTS13
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160323
  ensembl transcript: ENST00000485925
  gene symbol: ADAMTS13
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000347927
  ensembl transcript: ENST00000355699
  gene symbol: ADAMTS13
  hgvsp: ENSP00000347927.2:p.Arg968_Val970del
  variant of: http://identifiers.org/hgnc/1366
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25899
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17741
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1974
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2047
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8342
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg968_Val970del
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: GAGAGGGGTC
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

9-136314952-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136314952
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 136314952
    reference: chr 9
allele count: 3888
allele frequency: 3.232995177116248e-2
allele num: 120260
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000348997
  ensembl transcript: ENST00000356589
  gene symbol: ADAMTS13
  hgvsc: ENST00000356589.2:c.2817C>T
  hgvsp: ENST00000356589.2:c.2817C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000347927
  ensembl transcript: ENST00000355699
  gene symbol: ADAMTS13
  hgvsc: ENST00000355699.2:c.2910C>T
  hgvsp: ENST00000355699.2:c.2910C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000435274
  ensembl transcript: ENST00000495234
  gene symbol: ADAMTS13
  hgvsc: ENST00000495234.1:c.*1742C>T
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360997
  ensembl transcript: ENST00000371929
  gene symbol: ADAMTS13
  hgvsc: ENST00000371929.3:c.2910C>T
  hgvsp: ENST00000371929.3:c.2910C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000444504
  ensembl transcript: ENST00000536611
  gene symbol: ADAMTS13
  hgvsc: ENST00000536611.1:c.*379C>T
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360984
  ensembl transcript: ENST00000371916
  gene symbol: ADAMTS13
  hgvsc: ENST00000371916.1:c.*1778C>T
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160323
  ensembl transcript: ENST00000485925
  gene symbol: ADAMTS13
  hgvsc: ENST00000485925.1:n.1726C>T
  variant of: http://identifiers.org/hgnc/1366
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 171
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 3.75e1
  variant carriers: 91
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 4.75e1
  variant carriers: 127
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.25e1
  variant carriers: 157
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 183
genotype depth: GenotypeDepth
  all individuals: 17017
  bin: 2.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 25423
  bin: 2.75e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 9771
  bin: 3.25e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 9.75e1
  variant carriers: 1679
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.75e1
  variant carriers: 192
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.25e1
  variant carriers: 160
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 4.25e1
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.25e1
  variant carriers: 192
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 189
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.75e1
  variant carriers: 187
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 163
genotype quality: GenotypeQuality
  all individuals: 1764
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val970Val
num of homozygotes: 77
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff

9-136314956-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136314956
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 136314956
    reference: chr 9
allele count: 1
allele frequency: 8.318775476249896e-6
allele num: 120210
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360997
  ensembl transcript: ENST00000371929
  gene symbol: ADAMTS13
  hgvsc: ENST00000371929.3:c.2914C>T
  hgvsp: ENSP00000360997.3:p.Arg972Trp
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000347927
  ensembl transcript: ENST00000355699
  gene symbol: ADAMTS13
  hgvsc: ENST00000355699.2:c.2914C>T
  hgvsp: ENSP00000347927.2:p.Arg972Trp
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000348997
  ensembl transcript: ENST00000356589
  gene symbol: ADAMTS13
  hgvsc: ENST00000356589.2:c.2821C>T
  hgvsp: ENSP00000348997.2:p.Arg941Trp
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000444504
  ensembl transcript: ENST00000536611
  gene symbol: ADAMTS13
  hgvsc: ENST00000536611.1:c.*383C>T
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000435274
  ensembl transcript: ENST00000495234
  gene symbol: ADAMTS13
  hgvsc: ENST00000495234.1:c.*1746C>T
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160323
  ensembl transcript: ENST00000485925
  gene symbol: ADAMTS13
  hgvsc: ENST00000485925.1:n.1730C>T
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360984
  ensembl transcript: ENST00000371916
  gene symbol: ADAMTS13
  hgvsc: ENST00000371916.1:c.*1782C>T
  variant of: http://identifiers.org/hgnc/1366
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17630
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1905
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2014
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg972Trp
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

9-136314957-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136314957
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 136314957
    reference: chr 9
allele count: 53
allele frequency: 4.409464541249293e-4
allele num: 120196
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000348997
  ensembl transcript: ENST00000356589
  gene symbol: ADAMTS13
  hgvsc: ENST00000356589.2:c.2822G>A
  hgvsp: ENSP00000348997.2:p.Arg941Gln
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000444504
  ensembl transcript: ENST00000536611
  gene symbol: ADAMTS13
  hgvsc: ENST00000536611.1:c.*384G>A
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000435274
  ensembl transcript: ENST00000495234
  gene symbol: ADAMTS13
  hgvsc: ENST00000495234.1:c.*1747G>A
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000347927
  ensembl transcript: ENST00000355699
  gene symbol: ADAMTS13
  hgvsc: ENST00000355699.2:c.2915G>A
  hgvsp: ENSP00000347927.2:p.Arg972Gln
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360997
  ensembl transcript: ENST00000371929
  gene symbol: ADAMTS13
  hgvsc: ENST00000371929.3:c.2915G>A
  hgvsp: ENSP00000360997.3:p.Arg972Gln
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160323
  ensembl transcript: ENST00000485925
  gene symbol: ADAMTS13
  hgvsc: ENST00000485925.1:n.1731G>A
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360984
  ensembl transcript: ENST00000371916
  gene symbol: ADAMTS13
  hgvsc: ENST00000371916.1:c.*1783G>A
  variant of: http://identifiers.org/hgnc/1366
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 17593
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1905
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 9.75e1
  variant carriers: 52
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8709
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg972Gln
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

9-136314971-TGTGCCC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136314971
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 136314965
    reference: chr 9
allele count: 1
allele frequency: 8.333888925928395e-6
allele num: 119992
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000348997
  ensembl transcript: ENST00000356589
  gene symbol: ADAMTS13
  hgvsc: ENST00000356589.2:c.2838_2843delTGCCCG
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000444504
  ensembl transcript: ENST00000536611
  gene symbol: ADAMTS13
  hgvsc: ENST00000536611.1:c.*400_*405delTGCCCG
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000435274
  ensembl transcript: ENST00000495234
  gene symbol: ADAMTS13
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360997
  ensembl transcript: ENST00000371929
  gene symbol: ADAMTS13
  hgvsc: ENST00000371929.3:c.2931_2936delTGCCCG
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000360984
  ensembl transcript: ENST00000371916
  gene symbol: ADAMTS13
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000347927
  ensembl transcript: ENST00000355699
  gene symbol: ADAMTS13
  hgvsc: ENST00000355699.2:c.2931_2936delTGCCCG
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160323
  ensembl transcript: ENST00000485925
  gene symbol: ADAMTS13
  hgvsc: ENST00000485925.1:n.1747_1752delTGCCCG
  variant of: http://identifiers.org/hgnc/1366
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Cys977_Arg979delinsTrp
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: TGTGCCC
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD

9-136314977-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136314977
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 136314977
    reference: chr 9
allele count: 1
allele frequency: 8.344459279038718e-6
allele num: 119840
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000348997
  ensembl transcript: ENST00000356589
  gene symbol: ADAMTS13
  hgvsc: ENST00000356589.2:c.2842C>T
  hgvsp: ENSP00000348997.2:p.Arg948Trp
  variant of: http://identifiers.org/hgnc/1366
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160323
  ensembl protein: ENSP00000444504
  ensembl transcript: ENST00000536611
  gene symbol: ADAMTS13
  hgvsc: ENST00000536611.1:c.*404C>T
  variant of: http://identifiers.org/hgnc/1366
canonical: true
consequence: missense
filter: PASS
hgvs: p.Arg979Trp
num of homozygotes: 0
reference allele: C

GenotypeDepth
all individuals: 782
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 249
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39437
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3045
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3916
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 637
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8669
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 903
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9438
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15716
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11150
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8292
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.224350293415877e-5
allele num: 62028
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.3e-1

MQ
type: SiteQuality
SIO_000300: 5.99e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

FS
type: SiteQuality
SIO_000300: 1.52e0

DP
type: SiteQuality
SIO_000300: 1.682081e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.444e1

VQSLOD
type: SiteQuality
SIO_000300: 2.75e0

GenotypeDepth
all individuals: 948
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 927
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 903
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3916
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 637
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3045
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8669
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 39437
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6448
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62028
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.119093028183937e-4
allele num: 9438
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8292
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11150
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15716
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

FS
type: SiteQuality
SIO_000300: 1.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.75e0

MQ
type: SiteQuality
SIO_000300: 5.99e1

DP
type: SiteQuality
SIO_000300: 1.682081e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.3e-1

QD
type: SiteQuality
SIO_000300: 1.444e1

GenotypeDepth
all individuals: 1002
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2416
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 720
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1792
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 841
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8665
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 190
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2625
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 937
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3161
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41543
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.877840909090909e-5
allele num: 11264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63614
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15998
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9712
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.34e0

VQSLOD
type: SiteQuality
SIO_000300: 6.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.409e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.711645e6

MQRankSum
type: SiteQuality
SIO_000300: -1.99e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeDepth
all individuals: 1837
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3248
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1904
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8670
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 946
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42548
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 860
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64488
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9910
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.191183754333828e-5
allele num: 16152
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11342
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.36e-1

QD
type: SiteQuality
SIO_000300: 9.77e0

FS
type: SiteQuality
SIO_000300: 9.625e0

VQSLOD
type: SiteQuality
SIO_000300: -5.78e-1

DP
type: SiteQuality
SIO_000300: 1.727961e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.332e0

GenotypeDepth
all individuals: 178
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 42548
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1904
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 285
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 860
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 946
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3248
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8670
bin: 9.75e1
variant carriers: 4

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.763357432551578e-4
allele num: 11342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.101352189554646e-5
allele num: 64488
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16152
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9910
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

FS
type: SiteQuality
SIO_000300: 9.625e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.332e0

MQRankSum
type: SiteQuality
SIO_000300: 1.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-2

DP
type: SiteQuality
SIO_000300: 1.727961e6

VQSLOD
type: SiteQuality
SIO_000300: -5.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 178
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1823
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 871
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 193
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 120
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42593
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8666
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 950
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3266
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9934
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.09626281078738e-5
allele num: 64594
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6546
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

Other
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allele frequency: 0.0e0
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VQSLOD
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SIO_000300: 7.6e-1

ReadPosRankSum
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FS
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InbreedingCoeff
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MQ
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SIO_000300: 5.945e1

ClippingRankSum
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SIO_000300: -3.59e-1

BaseQRankSum
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MQRankSum
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SIO_000300: -5.9e-2

QD
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SIO_000300: 1.295e1

DP
type: SiteQuality
SIO_000300: 1.729766e6

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.545738399233314e-5
allele num: 64694
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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African
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Other
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MQ
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SIO_000300: 6.0e1

ReadPosRankSum
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QD
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VQSLOD
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FS
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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SIO_000300: 4.6e0

DP
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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
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Latino
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allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

South 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: 3.082614056720099e-5
allele num: 64880
num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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Other
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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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MQRankSum
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QD
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VQSLOD
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BaseQRankSum
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FS
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DP
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MQ
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InbreedingCoeff
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SIO_000300: -2.0e-4

ClippingRankSum
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SIO_000300: -4.1e-2

ReadPosRankSum
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SIO_000300: -1.22e-1

GenotypeDepth
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variant carriers: 0

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

African
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allele frequency: 9.934432743890324e-5
allele num: 10066
num of homozygotes: 0

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

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

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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Other
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InbreedingCoeff
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FS
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MQRankSum
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VQSLOD
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BaseQRankSum
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DP
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ReadPosRankSum
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MQ
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SIO_000300: 5.844e1

ClippingRankSum
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QD
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SIO_000300: 1.386e1

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: 65222
num of homozygotes: 0

Other
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num of homozygotes: 0

African
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allele num: 10068
num of homozygotes: 0

Latino
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European (Finnish)
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South Asian
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East Asian
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DP
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BaseQRankSum
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VQSLOD
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FS
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ReadPosRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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QD
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ClippingRankSum
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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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African
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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

European (Non-Finnish)
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Latino
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East Asian
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South Asian
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Other
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ReadPosRankSum
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MQRankSum
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DP
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ClippingRankSum
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BaseQRankSum
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QD
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FS
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VQSLOD
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MQ
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InbreedingCoeff
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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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South Asian
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African
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Other
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Latino
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European (Non-Finnish)
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VQSLOD
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MQRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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FS
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DP
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QD
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ClippingRankSum
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ReadPosRankSum
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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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Latino
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South Asian
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African
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European (Finnish)
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Other
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European (Non-Finnish)
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East Asian
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MQ
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VQSLOD
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InbreedingCoeff
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SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-2

FS
type: SiteQuality
SIO_000300: 5.590000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.18e-1

QD
type: SiteQuality
SIO_000300: 1.275e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.13e0

DP
type: SiteQuality
SIO_000300: 1.716206e6

GenotypeDepth
all individuals: 486
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variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 4.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 902
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variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16126
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9844
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64352
num of homozygotes: 0

Latino
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allele count: 3
allele frequency: 2.652519893899204e-4
allele num: 11310
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -7.185e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.891e0

DP
type: SiteQuality
SIO_000300: 1.702138e6

QD
type: SiteQuality
SIO_000300: 1.132e1

MQ
type: SiteQuality
SIO_000300: 5.876e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8346
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11216
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9720
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.577336824505505e-5
allele num: 63398
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.266e1

VQSLOD
type: SiteQuality
SIO_000300: 6.03e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.26e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.29e-1

DP
type: SiteQuality
SIO_000300: 1.611904e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.26e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 932
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variant carriers: 0

GenotypeQuality
all individuals: 27046
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.578332649389185e-5
allele num: 63358
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9714
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8344
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11208
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16006
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.932e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.088e0

FS
type: SiteQuality
SIO_000300: 1.645e0

DP
type: SiteQuality
SIO_000300: 1.603818e6

VQSLOD
type: SiteQuality
SIO_000300: -1.338e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.171e0

MQRankSum
type: SiteQuality
SIO_000300: 1.45e-1

QD
type: SiteQuality
SIO_000300: 9.6e0

GenotypeQuality
all individuals: 6173
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
all individuals: 273
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variant carriers: 0

GenotypeQuality
all individuals: 845
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8340
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11200
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.324310650139134e-5
allele num: 63248
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15986
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9716
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.32e-1

DP
type: SiteQuality
SIO_000300: 1.604445e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

MQRankSum
type: SiteQuality
SIO_000300: 8.24e-1

FS
type: SiteQuality
SIO_000300: 1.152e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.94e-1

QD
type: SiteQuality
SIO_000300: 1.484e1

GenotypeQuality
all individuals: 348
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 722
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11166
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.253918495297806e-4
allele num: 15950
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63062
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8308
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9670
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.314e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.81e0

MQRankSum
type: SiteQuality
SIO_000300: -2.02e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.12e-1

FS
type: SiteQuality
SIO_000300: 7.076e0

DP
type: SiteQuality
SIO_000300: 1.570763e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.86e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11146
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.590330788804071e-5
allele num: 62880
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9644
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15930
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8278
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.049e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQ
type: SiteQuality
SIO_000300: 5.844e1

MQRankSum
type: SiteQuality
SIO_000300: -1.244e0

VQSLOD
type: SiteQuality
SIO_000300: -1.604e0

DP
type: SiteQuality
SIO_000300: 1.559289e6

QD
type: SiteQuality
SIO_000300: 1.143e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3186
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6313
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11054
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62092
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8166
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.895135818066961e-4
allele num: 15830
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.761e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.78e-1

QD
type: SiteQuality
SIO_000300: 1.583e1

MQRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.546043e6

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8066
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15698
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.124087591240875e-5
allele num: 10960
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9408
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61398
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.753e1

VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

MQRankSum
type: SiteQuality
SIO_000300: -1.986e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.65e-1

QD
type: SiteQuality
SIO_000300: 9.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.96e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.551748e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e0

GenotypeQuality
all individuals: 30
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4746
bin: 6.25e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.163602513381429e-4
allele num: 8594
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66418
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.57e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.97e0

MQRankSum
type: SiteQuality
SIO_000300: 5.35e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-1

QD
type: SiteQuality
SIO_000300: 1.294e1

DP
type: SiteQuality
SIO_000300: 2.537495e6

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 4057
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505479947007106e-5
allele num: 66424
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.457e0

DP
type: SiteQuality
SIO_000300: 2.545219e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.314e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.42e-1

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

GenotypeQuality
all individuals: 163
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variant carriers: 0

GenotypeQuality
all individuals: 31434
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505208019748329e-5
allele num: 66436
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.41e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.547318e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.57e0

QD
type: SiteQuality
SIO_000300: 1.456e1

GenotypeQuality
all individuals: 264
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 3937
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4225
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GenotypeQuality
all individuals: 2377
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.733402669440111e-4
allele num: 11538
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66470
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.856e1

DP
type: SiteQuality
SIO_000300: 2.558498e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.66e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

MQRankSum
type: SiteQuality
SIO_000300: 2.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e0

GenotypeQuality
all individuals: 151
bin: 4.75e1
variant carriers: 151

GenotypeQuality
all individuals: 4
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variant carriers: 4

GenotypeQuality
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variant carriers: 79

GenotypeQuality
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variant carriers: 54

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 55

GenotypeQuality
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variant carriers: 447

GenotypeQuality
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variant carriers: 632

GenotypeQuality
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variant carriers: 53569

GenotypeQuality
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variant carriers: 1335

GenotypeQuality
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variant carriers: 436

GenotypeQuality
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variant carriers: 15

GenotypeQuality
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variant carriers: 8

GenotypeQuality
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variant carriers: 163

GenotypeQuality
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variant carriers: 799

GenotypeQuality
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variant carriers: 230

GenotypeQuality
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variant carriers: 23

GenotypeQuality
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variant carriers: 943

GenotypeQuality
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bin: 9.25e1
variant carriers: 1746

Other
type: Population
allele count: 906
allele frequency: 1.0e0
allele num: 906
num of homozygotes: 453

East Asian
type: Population
allele count: 8640
allele frequency: 1.0e0
allele num: 8640
num of homozygotes: 4320

South Asian
type: Population
allele count: 16500
allele frequency: 1.0e0
allele num: 16500
num of homozygotes: 8250

European (Non-Finnish)
type: Population
allele count: 66661
allele frequency: 9.999849989499265e-1
allele num: 66662
num of homozygotes: 33330

Latino
type: Population
allele count: 11568
allele frequency: 1.0e0
allele num: 11568
num of homozygotes: 5784

European (Finnish)
type: Population
allele count: 6612
allele frequency: 1.0e0
allele num: 6612
num of homozygotes: 3306

African
type: Population
allele count: 10392
allele frequency: 1.0e0
allele num: 10392
num of homozygotes: 5196

FS
type: SiteQuality
SIO_000300: 1.2148e1

MQ
type: SiteQuality
SIO_000300: 5.964e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.225e0

DP
type: SiteQuality
SIO_000300: 3.464554e6

VQSLOD
type: SiteQuality
SIO_000300: -9.292e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

QD
type: SiteQuality
SIO_000300: 3.463e1

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 668
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.999160117583539e-5
allele num: 66676
num of homozygotes: 0

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

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -6.06e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e0

QD
type: SiteQuality
SIO_000300: 1.277e1

FS
type: SiteQuality
SIO_000300: 1.817e0

MQRankSum
type: SiteQuality
SIO_000300: 4.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.984126e6

GenotypeQuality
all individuals: 42
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 17
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GenotypeQuality
all individuals: 7478
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499790029395885e-5
allele num: 66676
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.303e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

QD
type: SiteQuality
SIO_000300: 9.9e0

MQRankSum
type: SiteQuality
SIO_000300: -2.32e-1

DP
type: SiteQuality
SIO_000300: 1.984509e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

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

GenotypeQuality
all individuals: 50
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37849
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7479
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1264
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2069
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2258
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8343
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.4e-1

QD
type: SiteQuality
SIO_000300: 1.42e1

FS
type: SiteQuality
SIO_000300: 1.258e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

DP
type: SiteQuality
SIO_000300: 1.984642e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -8.129999999999999e-1

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

GenotypeQuality
all individuals: 2259
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 527
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7477
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8336
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2075
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37937
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1261
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

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

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

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.985381e6

FS
type: SiteQuality
SIO_000300: 9.573e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.942e1

VQSLOD
type: SiteQuality
SIO_000300: -5.572e-1

QD
type: SiteQuality
SIO_000300: 1.098e1

MQRankSum
type: SiteQuality
SIO_000300: -1.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.406e0

GenotypeDepth
all individuals: 796
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 526
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2074
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37991
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 7485
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2258
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8332
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1262
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499430216517723e-5
allele num: 66692
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211827435773146e-4
allele num: 16504
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.983e1

MQRankSum
type: SiteQuality
SIO_000300: -4.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-1

QD
type: SiteQuality
SIO_000300: 1.222e1

FS
type: SiteQuality
SIO_000300: 1.531e0

DP
type: SiteQuality
SIO_000300: 1.98576e6

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

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

GenotypeQuality
all individuals: 2258
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 37990
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1262
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 664
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2073
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7482
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8334
bin: 9.75e1
variant carriers: 22

GenotypeQuality
all individuals: 525
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 16
allele frequency: 1.539349624783529e-3
allele num: 10394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.497151082588616e-5
allele num: 66692
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.67e0

MQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.064e0

DP
type: SiteQuality
SIO_000300: 1.986833e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.355e1

MQ
type: SiteQuality
SIO_000300: 5.936e1

GenotypeDepth
all individuals: 831
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 932
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1170
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2247
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2073
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 525
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8320
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 32
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38022
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7483
bin: 6.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1261
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2257
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.564e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.62e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.985564e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.27e-1

QD
type: SiteQuality
SIO_000300: 2.71e0

MQRankSum
type: SiteQuality
SIO_000300: 1.31e-1

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

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2257
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8302
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2073
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 663
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 1261
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 525
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 4.655e0

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

VQSLOD
type: SiteQuality
SIO_000300: 6.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.54e-1

QD
type: SiteQuality
SIO_000300: 1.788e1

DP
type: SiteQuality
SIO_000300: 1.985303e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.95e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

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

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2256
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 525
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variant carriers: 0

GenotypeQuality
all individuals: 38066
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 2072
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8301
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 7493
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1261
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 2.285e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.38e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.38e0

MQ
type: SiteQuality
SIO_000300: 5.918e1

DP
type: SiteQuality
SIO_000300: 1.985615e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.6e-1

FS
type: SiteQuality
SIO_000300: 4.078e0

MQRankSum
type: SiteQuality
SIO_000300: -7.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.59e-1

GenotypeQuality
all individuals: 2072
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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
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7498
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 17

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
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allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.495577609210566e-5
allele num: 66706
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.846893633391037e-4
allele num: 10398
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.184033177812338e-4
allele num: 11574
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.11e0

MQRankSum
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SIO_000300: 2.93e-1

FS
type: SiteQuality
SIO_000300: 2.788e0

QD
type: SiteQuality
SIO_000300: 1.288e1

BaseQRankSum
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SIO_000300: 2.51e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.98657e6

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

FS
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SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: -1.0e-4

BaseQRankSum
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SIO_000300: 7.7e-2

QD
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SIO_000300: 1.11e1

DP
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SIO_000300: 1.985253e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

MQRankSum
type: SiteQuality
SIO_000300: 7.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.58e-1

MQ
type: SiteQuality
SIO_000300: 5.921e1

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.876e1

BaseQRankSum
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SIO_000300: -1.776e0

FS
type: SiteQuality
SIO_000300: 5.51e0

VQSLOD
type: SiteQuality
SIO_000300: -5.624e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.57e-1

QD
type: SiteQuality
SIO_000300: 1.025e1

DP
type: SiteQuality
SIO_000300: 1.98494e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.080000000000001e-1

InbreedingCoeff
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SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.242e0

DP
type: SiteQuality
SIO_000300: 1.984964e6

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.03e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.504e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.63e-1

QD
type: SiteQuality
SIO_000300: 1.185e1

GenotypeQuality
all individuals: 523
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 1.984964e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.504e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.242e0

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 1.185e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.03e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.981e1

FS
type: SiteQuality
SIO_000300: 3.419e0

MQRankSum
type: SiteQuality
SIO_000300: 1.89e-1

InbreedingCoeff
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SIO_000300: 3.0e-4

QD
type: SiteQuality
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ClippingRankSum
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SIO_000300: -1.708e0

BaseQRankSum
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SIO_000300: 8.400000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.984905e6

VQSLOD
type: SiteQuality
SIO_000300: 8.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 46
allele frequency: 6.894897775646022e-4
allele num: 66716
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.884615384615385e-4
allele num: 10400
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.211e1

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-1

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.951e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.11e-1

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

African
type: Population
allele count: 4
allele frequency: 3.846153846153846e-4
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.951e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.46e0

MQRankSum
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SIO_000300: 2.6e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.988477e6

QD
type: SiteQuality
SIO_000300: 1.211e1

GenotypeQuality
all individuals: 2499
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 739
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5519
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 1.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4986
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15548
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.710044803173843e-5
allele num: 58478
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7592
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.37e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.78e-2

QD
type: SiteQuality
SIO_000300: 1.722e1

DP
type: SiteQuality
SIO_000300: 1.338969e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 444
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 733
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2638
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5517
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58570
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4990
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9162
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9228
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15558
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.2e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

QD
type: SiteQuality
SIO_000300: 1.54e1

DP
type: SiteQuality
SIO_000300: 1.336876e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

GenotypeQuality
all individuals: 246
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1976
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5277
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1532
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7396
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9125
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 286
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1690
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.601025371368476e-4
allele num: 15214
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4698
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56304
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8966
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

DP
type: SiteQuality
SIO_000300: 1.216797e6

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.02e0

FS
type: SiteQuality
SIO_000300: 2.245e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

QD
type: SiteQuality
SIO_000300: 1.43e1

GenotypeQuality
all individuals: 3738
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7732
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1983
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11791
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6111
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3620
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2587
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52952
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4308
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7398
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.356483993488877e-4
allele num: 14744
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 2.488e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.3e-3

QD
type: SiteQuality
SIO_000300: 9.08e0

DP
type: SiteQuality
SIO_000300: 1.164638e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

GenotypeQuality
all individuals: 2270
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5185
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6075
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5216
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 888
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variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
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variant carriers: 0

GenotypeQuality
all individuals: 2611
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5507
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 499
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7022
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6370
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14548
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.943483499825086e-5
allele num: 51454
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8326
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4034
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

DP
type: SiteQuality
SIO_000300: 1.160526e6

VQSLOD
type: SiteQuality
SIO_000300: -2.175e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.2e-3

MQ
type: SiteQuality
SIO_000300: 5.875e1

FS
type: SiteQuality
SIO_000300: 1.6578e1

MQRankSum
type: SiteQuality
SIO_000300: -1.5e-1

QD
type: SiteQuality
SIO_000300: 1.224e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.15e0

GenotypeQuality
all individuals: 1001
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 595
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variant carriers: 0

GenotypeQuality
all individuals: 1986
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variant carriers: 0

GenotypeQuality
all individuals: 577
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variant carriers: 0

GenotypeQuality
all individuals: 7987
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variant carriers: 0

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

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

GenotypeQuality
all individuals: 623
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3155
bin: 9.75e1
variant carriers: 5

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.672948253636978e-5
allele num: 65164
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16370
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6446
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQ
type: SiteQuality
SIO_000300: 5.381e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.56e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.769e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-2

DP
type: SiteQuality
SIO_000300: 1.652548e6

QD
type: SiteQuality
SIO_000300: 1.781e1

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

GenotypeQuality
all individuals: 197
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1045
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 624
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variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1133
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8080
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3160
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 38871
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6454
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10098
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.658375199117755e-5
allele num: 65288
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.873e1

MQRankSum
type: SiteQuality
SIO_000300: -1.993e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQ
type: SiteQuality
SIO_000300: 5.288e1

FS
type: SiteQuality
SIO_000300: 4.945e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.195e0

DP
type: SiteQuality
SIO_000300: 1.662014e6

VQSLOD
type: SiteQuality
SIO_000300: -1.022e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.94e-1

GenotypeQuality
all individuals: 711
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 679
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 469
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 36
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variant carriers: 0

GenotypeQuality
all individuals: 8083
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 625
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variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3156
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65308
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.09979260705136e-5
allele num: 16394
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10102
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6448
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.952e1

FS
type: SiteQuality
SIO_000300: 1.216e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e-1

DP
type: SiteQuality
SIO_000300: 1.664098e6

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.755e0

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.81e-1

QD
type: SiteQuality
SIO_000300: 1.376e1

GenotypeQuality
all individuals: 426
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 997
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
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variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 623
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variant carriers: 0

GenotypeQuality
all individuals: 95
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variant carriers: 0

GenotypeQuality
all individuals: 608
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variant carriers: 0

GenotypeQuality
all individuals: 3157
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10108
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65348
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6456
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16400
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.668433e6

FS
type: SiteQuality
SIO_000300: 3.776e0

MQRankSum
type: SiteQuality
SIO_000300: -1.085e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.76e-1

QD
type: SiteQuality
SIO_000300: 1.445e1

MQ
type: SiteQuality
SIO_000300: 5.954e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.268e0

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1958
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variant carriers: 0

GenotypeQuality
all individuals: 53
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GenotypeQuality
all individuals: 623
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
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variant carriers: 0

GenotypeQuality
all individuals: 8110
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 167
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GenotypeQuality
all individuals: 39934
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1133
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.095330976472023e-5
allele num: 16406
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10110
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65402
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.05e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.258e0

MQRankSum
type: SiteQuality
SIO_000300: 1.47e0

DP
type: SiteQuality
SIO_000300: 1.671176e6

QD
type: SiteQuality
SIO_000300: 1.71e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.544e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 208
bin: 3.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.69414014953921e-5
allele num: 11502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65700
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.33e-1

FS
type: SiteQuality
SIO_000300: 4.743e0

QD
type: SiteQuality
SIO_000300: 1.311e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

DP
type: SiteQuality
SIO_000300: 1.688511e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5194797301404e-5
allele num: 65812
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.08e-1

FS
type: SiteQuality
SIO_000300: 8.68e-1

MQ
type: SiteQuality
SIO_000300: 5.941e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 8.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.356e0

VQSLOD
type: SiteQuality
SIO_000300: 9.3e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.3e-2

QD
type: SiteQuality
SIO_000300: 1.31e1

DP
type: SiteQuality
SIO_000300: 1.693169e6

GenotypeQuality
all individuals: 3165
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6500
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.677542519958348e-5
allele num: 11524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65902
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.921e1

MQRankSum
type: SiteQuality
SIO_000300: -7.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.07e-1

QD
type: SiteQuality
SIO_000300: 1.134e1

DP
type: SiteQuality
SIO_000300: 1.696359e6

VQSLOD
type: SiteQuality
SIO_000300: 8.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

FS
type: SiteQuality
SIO_000300: 7.99e-1

GenotypeQuality
all individuals: 39
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2041
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516852228255923e-5
allele num: 65926
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.49e-1

DP
type: SiteQuality
SIO_000300: 1.697638e6

FS
type: SiteQuality
SIO_000300: 4.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.708e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.57e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

QD
type: SiteQuality
SIO_000300: 9.76e0

GenotypeQuality
all individuals: 625
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2041
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3164
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 41803
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1972
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variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 3.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.033704456511847e-5
allele num: 65926
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.15e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

VQSLOD
type: SiteQuality
SIO_000300: 2.32e0

QD
type: SiteQuality
SIO_000300: 9.76e0

DP
type: SiteQuality
SIO_000300: 1.697638e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.708e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8309
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.73550850399167e-4
allele num: 11524
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51666818333485e-5
allele num: 65934
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.25e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.071e0

DP
type: SiteQuality
SIO_000300: 1.697805e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 2.345e1

VQSLOD
type: SiteQuality
SIO_000300: -1.605e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65940
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-2

QD
type: SiteQuality
SIO_000300: 1.093e1

DP
type: SiteQuality
SIO_000300: 1.697781e6

MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.66e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 46
bin: 5.25e1
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GenotypeQuality
all individuals: 1973
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.580121888359964e-5
allele num: 65962
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.387e0

DP
type: SiteQuality
SIO_000300: 1.698996e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.29e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

QD
type: SiteQuality
SIO_000300: 1.164e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.72e-1

GenotypeQuality
all individuals: 53
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
all individuals: 3169
bin: 9.75e1
variant carriers: 20

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42003
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 19
allele frequency: 1.842513576415826e-3
allele num: 10312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65964
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.201e1

DP
type: SiteQuality
SIO_000300: 1.699738e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.97e-2

FS
type: SiteQuality
SIO_000300: 5.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.57e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.8e-2

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeQuality
all individuals: 8337
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3152
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2038
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42051
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1135
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 9.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.677542519958348e-5
allele num: 11524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65964
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.878e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 1.698696e6

FS
type: SiteQuality
SIO_000300: 8.43e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.944e0

QD
type: SiteQuality
SIO_000300: 1.169e1

MQ
type: SiteQuality
SIO_000300: 5.886e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.79e-1

GenotypeQuality
all individuals: 1975
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 131
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41989
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3152
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1134
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65968
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.639294827186268e-4
allele num: 8622
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.25e-1

FS
type: SiteQuality
SIO_000300: 2.492e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.8e-1

QD
type: SiteQuality
SIO_000300: 1.171e1

MQ
type: SiteQuality
SIO_000300: 5.904e1

DP
type: SiteQuality
SIO_000300: 1.69887e6

GenotypeQuality
all individuals: 132
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3152
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42029
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1135
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.676036786395974e-5
allele num: 11526
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65976
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.522999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.36e-1

FS
type: SiteQuality
SIO_000300: 4.753e0

MQ
type: SiteQuality
SIO_000300: 5.674e1

QD
type: SiteQuality
SIO_000300: 7.0e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.272e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.325e0

DP
type: SiteQuality
SIO_000300: 1.698715e6

GenotypeQuality
all individuals: 53
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1876
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8051
bin: 6.75e1
variant carriers: 4

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 43
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5069
bin: 9.75e1
variant carriers: 3794

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41252
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 446
bin: 9.25e1
variant carriers: 5

European (Finnish)
type: Population
allele count: 476
allele frequency: 7.389009624340268e-2
allele num: 6442
num of homozygotes: 22

African
type: Population
allele count: 99
allele frequency: 9.598603839441536e-3
allele num: 10314
num of homozygotes: 2

Latino
type: Population
allele count: 152
allele frequency: 1.319215413990627e-2
allele num: 11522
num of homozygotes: 1

East Asian
type: Population
allele count: 5
allele frequency: 5.795085767269356e-4
allele num: 8628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2715
allele frequency: 4.115382283392954e-2
allele num: 65972
num of homozygotes: 42

Other
type: Population
allele count: 44
allele frequency: 4.954954954954955e-2
allele num: 888
num of homozygotes: 2

South Asian
type: Population
allele count: 397
allele frequency: 2.406935855462592e-2
allele num: 16494
num of homozygotes: 8

DP
type: SiteQuality
SIO_000300: 1.895323e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.76e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.229e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.4e0

MQRankSum
type: SiteQuality
SIO_000300: 1.82e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

GenotypeQuality
all individuals: 370
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 958
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43888
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8716
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.699321047526673e-5
allele num: 10310
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65942
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.653438e6

FS
type: SiteQuality
SIO_000300: 3.487e0

MQRankSum
type: SiteQuality
SIO_000300: 1.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.45e0

VQSLOD
type: SiteQuality
SIO_000300: -8.88e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e0

QD
type: SiteQuality
SIO_000300: 1.152e1

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2012
bin: 7.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43821
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 30
allele frequency: 1.819284414796847e-3
allele num: 16490
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.735809755250825e-4
allele num: 11522
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.123595505617978e-3
allele num: 890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 3.033152355242804e-4
allele num: 65938
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.72e0

DP
type: SiteQuality
SIO_000300: 1.655882e6

FS
type: SiteQuality
SIO_000300: 5.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.961e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-1

QD
type: SiteQuality
SIO_000300: 1.232e1

GenotypeQuality
all individuals: 69
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1904
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8709
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43754
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517957436473481e-5
allele num: 65878
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6358
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.15e0

DP
type: SiteQuality
SIO_000300: 1.649676e6

MQRankSum
type: SiteQuality
SIO_000300: -1.522e0

FS
type: SiteQuality
SIO_000300: 4.346e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.37e-1

MQ
type: SiteQuality
SIO_000300: 5.849e1

QD
type: SiteQuality
SIO_000300: 6.44e0