5-74016258-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016258
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016256
    reference: chr 5
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.361_362delGA
  hgvsp: ENSP00000423713.1:p.Lys122ThrfsTer21
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.144_145delGA
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.301_302delGA
  hgvsp: ENSP00000426384.1:p.Lys102ThrfsTer21
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1425_1426delGA
  hgvsp: ENSP00000261416.7:p.Lys476ThrfsTer21
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.750_751delGA
  hgvsp: ENSP00000426285.1:p.Lys251ThrfsTer21
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.622_623delGA
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.-139_-138delGA
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7821
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6716
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3996
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7511
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40633
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3018
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1910
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys476ThrfsTer21
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: CAG
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD

5-74016264-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016264
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016262
    reference: chr 5
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.307_308delGA
  hgvsp: ENSP00000426384.1:p.Lys104ThrfsTer19
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.150_151delGA
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.367_368delGA
  hgvsp: ENSP00000423713.1:p.Lys124ThrfsTer19
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.-133_-132delGA
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1431_1432delGA
  hgvsp: ENSP00000261416.7:p.Lys478ThrfsTer19
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.628_629delGA
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.756_757delGA
  hgvsp: ENSP00000426285.1:p.Lys253ThrfsTer19
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3435
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7820
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6717
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2869
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4763
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys478ThrfsTer19
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: CAG
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/5-74016272-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016272
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016272
    reference: chr 5
allele count: 8
allele frequency: 6.591414682376204e-5
allele num: 121370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.762A>C
  hgvsp: ENSP00000426285.1:p.Gln254His
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.313A>C
  hgvsp: ENSP00000426384.1:p.Gln105His
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.373A>C
  hgvsp: ENSP00000423713.1:p.Gln125His
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.-127A>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.156A>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.634A>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1437A>C
  hgvsp: ENSP00000261416.7:p.Gln479His
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7818
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7510
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6718
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1909
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4778
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3017
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln479His
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

5-74016280-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016280
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016280
    reference: chr 5
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1445T>G
  hgvsp: ENSP00000261416.7:p.Ile482Ser
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.642T>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.770T>G
  hgvsp: ENSP00000426285.1:p.Ile257Ser
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.321T>G
  hgvsp: ENSP00000426384.1:p.Ile108Ser
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.-119T>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.381T>G
  hgvsp: ENSP00000423713.1:p.Ile128Ser
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.164T>G
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7818
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6718
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5726
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7509
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3436
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3089
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3017
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile482Ser
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

5-74016283-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016283
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016283
    reference: chr 5
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.384G>A
  hgvsp: ENSP00000423713.1:p.Gly129Asp
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1448G>A
  hgvsp: ENSP00000261416.7:p.Gly483Asp
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.-116G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.773G>A
  hgvsp: ENSP00000426285.1:p.Gly258Asp
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.645G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.324G>A
  hgvsp: ENSP00000426384.1:p.Gly109Asp
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.167G>A
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7509
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5156
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3435
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6718
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7818
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1661
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2700
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly483Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

5-74016288-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016288
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016288
    reference: chr 5
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1453G>A
  hgvsp: ENSP00000261416.7:p.Glu485Lys
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.389G>A
  hgvsp: ENSP00000423713.1:p.Glu131Lys
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.650G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.172G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.329G>A
  hgvsp: ENSP00000426384.1:p.Glu111Lys
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.-111G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.778G>A
  hgvsp: ENSP00000426285.1:p.Glu260Lys
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7820
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7509
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3435
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6718
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4476
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2871
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2700
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu485Lys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

5-74016296-T-TCTATGGGGAGAATATGTGGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016296
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016316
    reference: chr 5
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: TCTATGGGGAGAATATGTGGA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsp: ENSP00000426285.1:p.Ala270TyrfsTer42
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsp: ENSP00000426384.1:p.Ala121TyrfsTer42
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsp: ENSP00000261416.7:p.Ala495TyrfsTer42
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsp: ENSP00000423713.1:p.Ala141TyrfsTer42
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5736
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6718
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7509
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4476
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7820
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3435
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1911
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2699
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40641
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala495TyrfsTer42
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: T
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum

5-74016307-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016307
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016307
    reference: chr 5
allele count: 3
allele frequency: 2.471210398853358e-5
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1472A>G
  hgvsp: ENSP00000261416.7:p.Glu491Gly
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.-92A>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.797A>G
  hgvsp: ENSP00000426285.1:p.Glu266Gly
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.348A>G
  hgvsp: ENSP00000426384.1:p.Glu117Gly
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.408A>G
  hgvsp: ENSP00000423713.1:p.Glu137Gly
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.669A>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.191A>G
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4476
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6717
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7820
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2699
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2869
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1911
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3017
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu491Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

5-74016327-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016327
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016327
    reference: chr 5
allele count: 2
allele frequency: 1.647609318878308e-5
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.689C>T
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.428C>T
  hgvsp: ENSP00000423713.1:p.Leu144Phe
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.368C>T
  hgvsp: ENSP00000426384.1:p.Leu124Phe
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.817C>T
  hgvsp: ENSP00000426285.1:p.Leu273Phe
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.-72C>T
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.211C>T
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1492C>T
  hgvsp: ENSP00000261416.7:p.Leu498Phe
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.15C>T
  hgvsp: ENSP00000424550.1:p.Leu6Phe
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3437
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7822
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6716
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2870
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1911
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4767
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu498Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum

5-74016329-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016329
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016329
    reference: chr 5
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.819C>G
  hgvsp: ENST00000511181.1:c.819C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.-70C>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.370C>G
  hgvsp: ENST00000503312.1:c.370C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.213C>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.430C>G
  hgvsp: ENST00000513336.1:c.430C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.17C>G
  hgvsp: ENST00000505859.1:c.17C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1494C>G
  hgvsp: ENST00000261416.7:c.1494C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.691C>G
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7820
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6716
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3437
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2693
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1661
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu498Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

5-74016329-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016329
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016329
    reference: chr 5
allele count: 3
allele frequency: 2.471413978317461e-5
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.17C>T
  hgvsp: ENST00000505859.1:c.17C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.691C>T
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.819C>T
  hgvsp: ENST00000511181.1:c.819C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.-70C>T
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.430C>T
  hgvsp: ENST00000513336.1:c.430C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.370C>T
  hgvsp: ENST00000503312.1:c.370C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.213C>T
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1494C>T
  hgvsp: ENST00000261416.7:c.1494C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6716
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7820
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3437
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4766
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3089
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2871
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu498Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/5-74016334-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016334
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016333
    reference: chr 5
allele count: 2
allele frequency: 1.647690761397901e-5
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.437delA
  hgvsp: ENSP00000423713.1:p.Arg147AspfsTer29
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.24delA
  hgvsp: ENSP00000424550.1:p.Arg9AspfsTer29
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.220delA
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.826delA
  hgvsp: ENSP00000426285.1:p.Arg276AspfsTer29
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.-63delA
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1501delA
  hgvsp: ENSP00000261416.7:p.Arg501AspfsTer29
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.698delA
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.377delA
  hgvsp: ENSP00000426384.1:p.Arg127AspfsTer29
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6716
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7820
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3436
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5736
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7507
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg501AspfsTer29
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: CA
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

5-74016344-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016344
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016344
    reference: chr 5
allele count: 2
allele frequency: 1.647962294622699e-5
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.444+1G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.705+1G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.227+1G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.-56+1G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1508+1G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.31+1G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.833+1G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.384+1G>A
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7821
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5731
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3435
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6716
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1912
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2871
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
hgvs: c.1508+1G>A
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

5-74016354-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016354
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016354
    reference: chr 5
allele count: 2
allele frequency: 1.647880825258717e-5
allele num: 121368
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.31+11T>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.384+11T>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.227+11T>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.444+11T>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1508+11T>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.-56+11T>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.833+11T>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.705+11T>C
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3996
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7507
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6716
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7822
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3434
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2689
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4710
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40641
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

5-74016361-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016361
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016361
    reference: chr 5
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.833+18T>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.227+18T>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.705+18T>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.31+18T>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.384+18T>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1508+18T>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.-56+18T>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.444+18T>C
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7507
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5728
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3996
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7823
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6717
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3435
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4664
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1912
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40642
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

5-74016361-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016361
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016361
    reference: chr 5
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.227+18T>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.444+18T>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.705+18T>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.-56+18T>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1508+18T>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.31+18T>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.384+18T>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.833+18T>G
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7823
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6717
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7507
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3435
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5728
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3996
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3019
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3088
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2685
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2872
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

5-74016365-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016365
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016365
    reference: chr 5
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.384+22A>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.705+22A>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.31+22A>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.227+22A>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.444+22A>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.-56+22A>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1508+22A>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.833+22A>G
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3996
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6716
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7826
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7507
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3434
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7212
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4628
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3019
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

5-74016372-A-AATT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016372
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016375
    reference: chr 5
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: AATT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.705+31_705+33dupTTA
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.444+31_444+33dupTTA
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.227+31_227+33dupTTA
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.31+31_31+33dupTTA
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.-56+31_-56+33dupTTA
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1508+31_1508+33dupTTA
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.384+31_384+33dupTTA
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.833+31_833+33dupTTA
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6716
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7825
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3996
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7510
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3434
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2866
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2680
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

5-74016393-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016393
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016393
    reference: chr 5
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.384+50C>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.227+50C>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.833+50C>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.31+50C>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.-56+50C>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1508+50C>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.444+50C>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.705+50C>G
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3998
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5729
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6723
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3434
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5157
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40643
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3824
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum

5-74016394-TTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016394
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016392
    reference: chr 5
allele count: 96
allele frequency: 7.912174859064385e-4
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.31+55_31+56delCT
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.227+55_227+56delCT
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.-56+55_-56+56delCT
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.833+55_833+56delCT
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.444+55_444+56delCT
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1508+55_1508+56delCT
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.384+55_384+56delCT
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.705+55_705+56delCT
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7508
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6718
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7852
  bin: 3.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5738
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5160
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 9.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7241
  bin: 3.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3869
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: TTC
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD

5-74016418-T-TAAAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016418
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016422
    reference: chr 5
allele count: 1
allele frequency: 8.255456856982466e-6
allele num: 121132
alternate allele: TAAAC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.706-48_706-45dupAACA
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1509-48_1509-45dupAACA
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.834-48_834-45dupAACA
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.445-48_445-45dupAACA
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.-55-48_-55-45dupAACA
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.385-48_385-45dupAACA
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.228-48_228-45dupAACA
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.32-48_32-45dupAACA
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9227
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

5-74016423-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016423
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016424
    reference: chr 5
allele count: 1
allele frequency: 8.256274768824306e-6
allele num: 121120
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.32-44dupT
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.228-44dupT
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1509-44dupT
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.834-44dupT
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.445-44dupT
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.-55-44dupT
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.706-44dupT
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.385-44dupT
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8892
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9220
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

5-74016423-ATAAATT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016423
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016417
    reference: chr 5
allele count: 1
allele frequency: 8.256274768824306e-6
allele num: 121120
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.385-40_385-35delTTTAAA
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.445-40_445-35delTTTAAA
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.706-40_706-35delTTTAAA
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.834-40_834-35delTTTAAA
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1509-40_1509-35delTTTAAA
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.228-40_228-35delTTTAAA
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.-55-40_-55-35delTTTAAA
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.32-40_32-35delTTTAAA
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8892
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9220
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37606
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: ATAAATT
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

5-74016431-AAACTGCTTGCGGGGGGATGTGTGATTTAAATTTT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016431
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016397
    reference: chr 5
allele count: 1
allele frequency: 8.257501940512956e-6
allele num: 121102
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10900
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: AAACTGCTTGCGGGGGGATGTGTGATTTAAATTTT
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

5-74016435-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016435
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016435
    reference: chr 5
allele count: 1
allele frequency: 8.259548037531387e-6
allele num: 121072
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.706-33T>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.834-33T>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.-55-33T>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.228-33T>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.385-33T>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.445-33T>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1509-33T>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.32-33T>C
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7200
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38114
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1648
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-74016436-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016436
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016436
    reference: chr 5
allele count: 2
allele frequency: 1.65180046250413e-5
allele num: 121080
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.445-32G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.385-32G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1509-32G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.706-32G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.228-32G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.-55-32G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.834-32G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.32-32G>A
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10876
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

5-74016441-C-CG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016441
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016442
    reference: chr 5
allele count: 7
allele frequency: 5.78397673188789e-5
allele num: 121024
alternate allele: CG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.706-21dupG
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1509-21dupG
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.32-21dupG
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.445-21dupG
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.-55-21dupG
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.385-21dupG
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.834-21dupG
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.228-21dupG
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10872
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7127
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

5-74016441-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016441
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016441
    reference: chr 5
allele count: 13
allele frequency: 1.074167107350608e-4
allele num: 121024
alternate allele: G
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38270
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9203
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7127
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8590
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 13
  allele frequency: 7.875923906458257e-4
  allele num: 16506
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66630
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11530
  num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

5-74016441-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016441
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016441
    reference: chr 5
allele count: 5
allele frequency: 4.131411951348493e-5
allele num: 121024
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.834-27C>T
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.32-27C>T
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.706-27C>T
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.445-27C>T
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.228-27C>T
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1509-27C>T
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.-55-27C>T
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.385-27C>T
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10872
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9203
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 38270
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7127
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff

5-74016441-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016441
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016440
    reference: chr 5
allele count: 1
allele frequency: 8.262823902696986e-6
allele num: 121024
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.834-21delG
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.-55-21delG
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1509-21delG
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.445-21delG
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.385-21delG
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.32-21delG
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.706-21delG
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.228-21delG
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7127
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
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: CG
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

5-74016441-CGGG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016441
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016438
    reference: chr 5
allele count: 1
allele frequency: 8.262823902696986e-6
allele num: 121024
alternate allele: C
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10872
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9203
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7127
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38270
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6602
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8590
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16506
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 906
  num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
reference allele: CGGG
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

5-74016442-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016442
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016442
    reference: chr 5
allele count: 7
allele frequency: 5.78311660415393e-5
allele num: 121042
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.-55-26G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.834-26G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.32-26G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.445-26G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.228-26G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.385-26G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.706-26G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1509-26G>A
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4110
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1597
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7154
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD

5-74016442-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016442
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016442
    reference: chr 5
allele count: 2
allele frequency: 1.652319029758266e-5
allele num: 121042
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.385-26G>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1509-26G>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.-55-26G>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.32-26G>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.228-26G>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.834-26G>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.706-26G>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.445-26G>C
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10858
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4110
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1597
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

5-74016444-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016444
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016444
    reference: chr 5
allele count: 189
allele frequency: 1.560435931307794e-3
allele num: 121120
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.445-24G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.834-24G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.228-24G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.-55-24G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.32-24G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.385-24G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.706-24G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1509-24G>A
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4115
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 3.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28419
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10822
  bin: 3.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 9426
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38691
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7160
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 3
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

5-74016445-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016445
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016445
    reference: chr 5
allele count: 1
allele frequency: 8.256547442121603e-6
allele num: 121116
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.-55-23G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.385-23G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.445-23G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.228-23G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.706-23G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.32-23G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1509-23G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.834-23G>A
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9475
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9042
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38904
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

5-74016446-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016446
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016446
    reference: chr 5
allele count: 1
allele frequency: 8.255320554097116e-6
allele num: 121134
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1509-22G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.32-22G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.228-22G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.706-22G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.-55-22G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.385-22G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.834-22G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.445-22G>A
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10843
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9525
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7181
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1584
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP

5-74016447-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016447
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016447
    reference: chr 5
allele count: 2
allele frequency: 1.651336757104876e-5
allele num: 121114
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.228-21G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1509-21G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.-55-21G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.32-21G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.706-21G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.385-21G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.445-21G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.834-21G>A
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9536
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10836
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9042
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

5-74016447-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016447
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016447
    reference: chr 5
allele count: 1
allele frequency: 8.256683785524381e-6
allele num: 121114
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.-55-21G>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.445-21G>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.32-21G>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.228-21G>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.706-21G>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1509-21G>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.385-21G>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.834-21G>C
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9536
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10836
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38993
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

5-74016448-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016448
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016448
    reference: chr 5
allele count: 2
allele frequency: 1.651200422707308e-5
allele num: 121124
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.-55-20A>T
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.32-20A>T
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.228-20A>T
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.385-20A>T
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1509-20A>T
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.706-20A>T
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.445-20A>T
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.834-20A>T
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39015
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP

5-74016453-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016453
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016453
    reference: chr 5
allele count: 2
allele frequency: 1.650764303872693e-5
allele num: 121156
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.706-15T>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.385-15T>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.445-15T>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.-55-15T>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.32-15T>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1509-15T>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.228-15T>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.834-15T>C
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28566
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39205
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

5-74016468-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016468
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016468
    reference: chr 5
allele count: 1
allele frequency: 8.248919391559706e-6
allele num: 121228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.445G>A
  hgvsp: ENSP00000423713.1:p.Trp149Ter
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1509G>A
  hgvsp: ENSP00000261416.7:p.Trp503Ter
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.385G>A
  hgvsp: ENSP00000426384.1:p.Trp129Ter
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.-55G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.706G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.228G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.32G>A
  hgvsp: ENSP00000424550.1:p.Trp11Ter
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.834G>A
  hgvsp: ENSP00000426285.1:p.Trp278Ter
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9766
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9032
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Trp503Ter
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

5-74016469-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016469
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016469
    reference: chr 5
allele count: 2
allele frequency: 1.649811096629436e-5
allele num: 121226
alternate allele: T
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1510C>T
  hgvsp: ENSP00000261416.7:p.Pro504Ser
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.33C>T
  hgvsp: ENSP00000424550.1:p.Pro12Ser
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.-54C>T
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.446C>T
  hgvsp: ENSP00000423713.1:p.Pro150Ser
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.229C>T
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.835C>T
  hgvsp: ENSP00000426285.1:p.Pro279Ser
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.707C>T
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.386C>T
  hgvsp: ENSP00000426384.1:p.Pro130Ser
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10788
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro504Ser
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

5-74016472-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016472
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016472
    reference: chr 5
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1513C>G
  hgvsp: ENSP00000261416.7:p.Arg505Gly
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.36C>G
  hgvsp: ENSP00000424550.1:p.Arg13Gly
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.-51C>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.710C>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.449C>G
  hgvsp: ENSP00000423713.1:p.Arg151Gly
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.838C>G
  hgvsp: ENSP00000426285.1:p.Arg280Gly
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.389C>G
  hgvsp: ENSP00000426384.1:p.Arg131Gly
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.232C>G
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10787
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg505Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-74016472-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016472
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016472
    reference: chr 5
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.232C>T
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.389C>T
  hgvsp: ENSP00000426384.1:p.Arg131Trp
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.710C>T
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.838C>T
  hgvsp: ENSP00000426285.1:p.Arg280Trp
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.-51C>T
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.449C>T
  hgvsp: ENSP00000423713.1:p.Arg151Trp
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1513C>T
  hgvsp: ENSP00000261416.7:p.Arg505Trp
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.36C>T
  hgvsp: ENSP00000424550.1:p.Arg13Trp
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10787
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9798
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg505Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

5-74016473-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016473
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016473
    reference: chr 5
allele count: 2
allele frequency: 1.649103712132456e-5
allele num: 121278
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.450G>A
  hgvsp: ENSP00000423713.1:p.Arg151Gln
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.37G>A
  hgvsp: ENSP00000424550.1:p.Arg13Gln
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.839G>A
  hgvsp: ENSP00000426285.1:p.Arg280Gln
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.711G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.233G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.390G>A
  hgvsp: ENSP00000426384.1:p.Arg131Gln
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1514G>A
  hgvsp: ENSP00000261416.7:p.Arg505Gln
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.-50G>A
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg505Gln
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

5-74016495-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016495
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016495
    reference: chr 5
allele count: 4
allele frequency: 3.296359171295305e-5
allele num: 121346
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.733A>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.59A>G
  hgvsp: ENST00000505859.1:c.59A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.-28A>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.255A>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.472A>G
  hgvsp: ENST00000513336.1:c.472A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.412A>G
  hgvsp: ENST00000503312.1:c.412A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1536A>G
  hgvsp: ENST00000261416.7:c.1536A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.861A>G
  hgvsp: ENST00000511181.1:c.861A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28756
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9898
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7128
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1573
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg512Arg
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

5-74016496-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016496
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016496
    reference: chr 5
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.-27C>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.734C>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1537C>G
  hgvsp: ENSP00000261416.7:p.Leu513Val
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.413C>G
  hgvsp: ENSP00000426384.1:p.Leu139Val
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.60C>G
  hgvsp: ENSP00000424550.1:p.Leu21Val
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.473C>G
  hgvsp: ENSP00000423713.1:p.Leu159Val
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.862C>G
  hgvsp: ENSP00000426285.1:p.Leu288Val
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.256C>G
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28757
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu513Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

5-74016497-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016497
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016497
    reference: chr 5
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.61T>C
  hgvsp: ENSP00000424550.1:p.Leu21Pro
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.414T>C
  hgvsp: ENSP00000426384.1:p.Leu139Pro
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.735T>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1538T>C
  hgvsp: ENSP00000261416.7:p.Leu513Pro
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.257T>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.863T>C
  hgvsp: ENSP00000426285.1:p.Leu288Pro
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.474T>C
  hgvsp: ENSP00000423713.1:p.Leu159Pro
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.-26T>C
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10751
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9903
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4102
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1576
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu513Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/5-74016502-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016502
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016502
    reference: chr 5
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.66A>C
  hgvsp: ENSP00000424550.1:p.Ser23Arg
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.740A>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.-21A>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.868A>C
  hgvsp: ENSP00000426285.1:p.Ser290Arg
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.419A>C
  hgvsp: ENSP00000426384.1:p.Ser141Arg
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.479A>C
  hgvsp: ENSP00000423713.1:p.Ser161Arg
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1543A>C
  hgvsp: ENSP00000261416.7:p.Ser515Arg
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.262A>C
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28770
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4102
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39742
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser515Arg
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/5-74016516-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016516
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016517
    reference: chr 5
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.434dupA
  hgvsp: ENSP00000426384.1:p.Arg146LysfsTer5
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.494dupA
  hgvsp: ENSP00000423713.1:p.Arg166LysfsTer5
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.755dupA
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.883dupA
  hgvsp: ENSP00000426285.1:p.Arg295LysfsTer5
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1558dupA
  hgvsp: ENSP00000261416.7:p.Arg520LysfsTer5
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.277dupA
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.81dupA
  hgvsp: ENSP00000424550.1:p.Arg28LysfsTer5
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.-6dupA
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4102
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28756
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9899
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39749
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9025
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg520LysfsTer5
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

5-74016518-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016518
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016518
    reference: chr 5
allele count: 5
allele frequency: 4.12173970389422e-5
allele num: 121308
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.-5G>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1559G>C
  hgvsp: ENSP00000261416.7:p.Arg520Thr
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.884G>C
  hgvsp: ENSP00000426285.1:p.Arg295Thr
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.435G>C
  hgvsp: ENSP00000426384.1:p.Arg146Thr
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.82G>C
  hgvsp: ENSP00000424550.1:p.Arg28Thr
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.756G>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.278G>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.495G>C
  hgvsp: ENSP00000423713.1:p.Arg166Thr
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9899
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28758
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4102
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg520Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

5-74016524-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016524
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016524
    reference: chr 5
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1565T>C
  hgvsp: ENSP00000261416.7:p.Met522Thr
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.88T>C
  hgvsp: ENSP00000424550.1:p.Met30Thr
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.284T>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.501T>C
  hgvsp: ENSP00000423713.1:p.Met168Thr
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.762T>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.890T>C
  hgvsp: ENSP00000426285.1:p.Met297Thr
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.441T>C
  hgvsp: ENSP00000426384.1:p.Met148Thr
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.2T>C
  hgvsp: ENSP00000424939.1:p.Met1?
  variant of: http://identifiers.org/hgnc/4879
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9903
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4102
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7114
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

5-74016526-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016526
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016526
    reference: chr 5
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.443G>A
  hgvsp: ENSP00000426384.1:p.Asp149Asn
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.90G>A
  hgvsp: ENSP00000424550.1:p.Asp31Asn
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.892G>A
  hgvsp: ENSP00000426285.1:p.Asp298Asn
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.503G>A
  hgvsp: ENSP00000423713.1:p.Asp169Asn
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.286G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1567G>A
  hgvsp: ENSP00000261416.7:p.Asp523Asn
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.764G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.4G>A
  hgvsp: ENSP00000424939.1:p.Asp2Asn
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp523Asn
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

5-74016531-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016531
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016531
    reference: chr 5
allele count: 7
allele frequency: 5.77319587628866e-5
allele num: 121250
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.291C>T
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.897C>T
  hgvsp: ENST00000511181.1:c.897C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.448C>T
  hgvsp: ENST00000503312.1:c.448C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.95C>T
  hgvsp: ENST00000505859.1:c.95C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.9C>T
  hgvsp: ENST00000509579.1:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.508C>T
  hgvsp: ENST00000513336.1:c.508C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.769C>T
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1572C>T
  hgvsp: ENST00000261416.7:c.1572C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4102
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9899
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp524Asp
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

5-74016532-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016532
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016532
    reference: chr 5
allele count: 2
allele frequency: 1.649756660892518e-5
allele num: 121230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.898G>A
  hgvsp: ENSP00000426285.1:p.Ala300Thr
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.10G>A
  hgvsp: ENSP00000424939.1:p.Ala4Thr
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.770G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.509G>A
  hgvsp: ENSP00000423713.1:p.Ala171Thr
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1573G>A
  hgvsp: ENSP00000261416.7:p.Ala525Thr
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.292G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.96G>A
  hgvsp: ENSP00000424550.1:p.Ala33Thr
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.449G>A
  hgvsp: ENSP00000426384.1:p.Ala151Thr
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4100
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala525Thr
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: G
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

5-74016538-GAC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016538
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016536
    reference: chr 5
allele count: 1
allele frequency: 8.254230293025175e-6
allele num: 121150
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1581_1582delCA
  hgvsp: ENSP00000261416.7:p.Asp527GlufsTer25
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.457_458delCA
  hgvsp: ENSP00000426384.1:p.Asp153GlufsTer22
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.18_19delCA
  hgvsp: ENSP00000424939.1:p.Asp6GlufsTer25
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.517_518delCA
  hgvsp: ENSP00000423713.1:p.Asp173GlufsTer25
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.906_907delCA
  hgvsp: ENSP00000426285.1:p.Asp302GlufsTer25
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.104_105delCA
  hgvsp: ENSP00000424550.1:p.Asp35GlufsTer22
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.300_301delCA
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.778_779delCA
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4100
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp527GlufsTer25
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: GAC
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ

5-74016545-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016545
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016545
    reference: chr 5
allele count: 1
allele frequency: 8.260776182530111e-6
allele num: 121054
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.23T>G
  hgvsp: ENSP00000424939.1:p.Leu8Arg
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.305T>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.522T>G
  hgvsp: ENSP00000423713.1:p.Leu175Arg
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.462T>G
  hgvsp: ENSP00000426384.1:p.Leu155Arg
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.911T>G
  hgvsp: ENSP00000426285.1:p.Leu304Arg
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1586T>G
  hgvsp: ENSP00000261416.7:p.Leu529Arg
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.783T>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.109T>G
  hgvsp: ENSP00000424550.1:p.Leu37Arg
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4100
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9836
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7034
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu529Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

5-74016548-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016548
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016548
    reference: chr 5
allele count: 18
allele frequency: 1.488316713796696e-4
allele num: 120942
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.465C>G
  hgvsp: ENSP00000426384.1:p.Thr156Arg
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.914C>G
  hgvsp: ENSP00000426285.1:p.Thr305Arg
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.525C>G
  hgvsp: ENSP00000423713.1:p.Thr176Arg
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.26C>G
  hgvsp: ENSP00000424939.1:p.Thr9Arg
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1589C>G
  hgvsp: ENSP00000261416.7:p.Thr530Arg
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.308C>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.112C>G
  hgvsp: ENSP00000424550.1:p.Thr38Arg
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.786C>G
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9808
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28582
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4102
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39495
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7020
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr530Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

5-74016551-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016551
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016551
    reference: chr 5
allele count: 1
allele frequency: 8.270888127967181e-6
allele num: 120906
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.29G>C
  hgvsp: ENSP00000424939.1:p.Arg10Thr
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.115G>C
  hgvsp: ENSP00000424550.1:p.Arg39Thr
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.917G>C
  hgvsp: ENSP00000426285.1:p.Arg306Thr
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.311G>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.528G>C
  hgvsp: ENSP00000423713.1:p.Arg177Thr
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.789G>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1592G>C
  hgvsp: ENSP00000261416.7:p.Arg531Thr
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.468G>C
  hgvsp: ENSP00000426384.1:p.Arg157Thr
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10629
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4100
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg531Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum

5-74016552-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016552
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016552
    reference: chr 5
allele count: 2
allele frequency: 1.655108492361674e-5
allele num: 120838
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.918G>C
  hgvsp: ENSP00000426285.1:p.Arg306Ser
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.116G>C
  hgvsp: ENSP00000424550.1:p.Arg39Ser
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.790G>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.30G>C
  hgvsp: ENSP00000424939.1:p.Arg10Ser
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.312G>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.529G>C
  hgvsp: ENSP00000423713.1:p.Arg177Ser
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.469G>C
  hgvsp: ENSP00000426384.1:p.Arg157Ser
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1593G>C
  hgvsp: ENSP00000261416.7:p.Arg531Ser
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9779
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4100
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1492
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg531Ser
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

5-74016556-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016556
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016556
    reference: chr 5
allele count: 4
allele frequency: 3.313617310336829e-5
allele num: 120714
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.794C>T
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1597C>T
  hgvsp: ENSP00000261416.7:p.Arg533Cys
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.533C>T
  hgvsp: ENSP00000423713.1:p.Arg179Cys
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.34C>T
  hgvsp: ENSP00000424939.1:p.Arg12Cys
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.120C>T
  hgvsp: ENSP00000424550.1:p.Arg41Cys
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.473C>T
  hgvsp: ENSP00000426384.1:p.Arg159Cys
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.922C>T
  hgvsp: ENSP00000426285.1:p.Arg308Cys
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.316C>T
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28474
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9762
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10554
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4100
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8994
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg533Cys
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

5-74016570-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016570
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016570
    reference: chr 5
allele count: 1
allele frequency: 8.39630562552477e-6
allele num: 119100
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.48C>T
  hgvsp: ENST00000509579.1:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.134C>T
  hgvsp: ENST00000505859.1:c.134C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.547C>T
  hgvsp: ENST00000513336.1:c.547C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.330C>T
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.487C>T
  hgvsp: ENST00000503312.1:c.487C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.808C>T
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.936C>T
  hgvsp: ENST00000511181.1:c.936C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1611C>T
  hgvsp: ENST00000261416.7:c.1611C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4099
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9447
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27117
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
hgvs: c.1611C>T
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

5-74016571-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016571
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016571
    reference: chr 5
allele count: 2
allele frequency: 1.681548369738856e-5
allele num: 118938
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.49G>A
  hgvsp: ENSP00000424939.1:p.Glu17Lys
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.488G>A
  hgvsp: ENSP00000426384.1:p.Glu164Lys
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.135G>A
  hgvsp: ENSP00000424550.1:p.Glu46Lys
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.331G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.548G>A
  hgvsp: ENSP00000423713.1:p.Glu184Lys
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.937G>A
  hgvsp: ENSP00000426285.1:p.Glu313Lys
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1612G>A
  hgvsp: ENSP00000261416.7:p.Glu538Lys
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.809G>A
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4099
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9498
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2653
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu538Lys
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

5-74016573-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016573
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016573
    reference: chr 5
allele count: 1
allele frequency: 8.43127666391245e-6
allele num: 118606
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.811G>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.136+1G>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.938+1G>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.489+1G>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.549+1G>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.332+1G>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.50+1G>C
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1613+1G>C
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2543
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26592
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4098
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3091
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6301
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8950
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 3.75e1
  variant carriers: 0
hgvs: c.1613+1G>C
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP

5-74016574-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016574
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016574
    reference: chr 5
allele count: 1
allele frequency: 8.456516591685553e-6
allele num: 118252
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.50+2T>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.332+2T>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.938+2T>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.489+2T>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.812T>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1613+2T>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.136+2T>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.549+2T>G
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: splice donor
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9390
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9207
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4098
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8947
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
hgvs: c.1613+2T>G
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS

5-74016576-AGAAATC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016576
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016570
    reference: chr 5
allele count: 3
allele frequency: 2.541425231269696e-5
allele num: 118044
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.136+5_136+10delGAAATC
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.815_820delGAAATC
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.938+5_938+10delGAAATC
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.50+5_50+10delGAAATC
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.549+5_549+10delGAAATC
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1613+5_1613+10delGAAATC
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.332+5_332+10delGAAATC
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.489+5_489+10delGAAATC
  variant of: http://identifiers.org/hgnc/4879
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4098
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
hgvs: c.1613+5_1613+10delGAAATC
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: AGAAATC
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

5-74016583-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016583
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016583
    reference: chr 5
allele count: 2
allele frequency: 1.716856093122274e-5
allele num: 116492
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1613+11T>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.938+11T>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.136+11T>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.332+11T>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.549+11T>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.50+11T>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.821T>G
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.489+11T>G
  variant of: http://identifiers.org/hgnc/4879
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6050
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4098
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23521
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32068
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff

5-74016584-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016584
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016583
    reference: chr 5
allele count: 46
allele frequency: 3.957533940155204e-4
allele num: 116234
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1613+14delT
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.824delT
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.938+14delT
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.50+14delT
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.332+14delT
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.136+14delT
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.549+14delT
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.489+14delT
  variant of: http://identifiers.org/hgnc/4879
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23091
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 7954
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8556
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4099
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6572
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8971
  bin: 9.75e1
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 5469
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31361
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: AT
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

5-74016589-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016589
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016589
    reference: chr 5
allele count: 1
allele frequency: 8.696710903936131e-6
allele num: 114986
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.50+17G>T
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.549+17G>T
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.827G>T
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.136+17G>T
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.332+17G>T
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1613+17G>T
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.489+17G>T
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.938+17G>T
  variant of: http://identifiers.org/hgnc/4879
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9624
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4096
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8927
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27223
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

5-74016591-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016591
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016591
    reference: chr 5
allele count: 1
allele frequency: 8.726460373143445e-6
allele num: 114594
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.136+19C>T
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.938+19C>T
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.829C>T
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.332+19C>T
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1613+19C>T
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.489+19C>T
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.50+19C>T
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.549+19C>T
  variant of: http://identifiers.org/hgnc/4879
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6539
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10565
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7810
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4096
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2733
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26008
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4712
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9557
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

5-74016596-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74016596
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74016596
    reference: chr 5
allele count: 1
allele frequency: 8.803901889317345e-6
allele num: 113586
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426285
  ensembl transcript: ENST00000511181
  gene symbol: HEXB
  hgvsc: ENST00000511181.1:c.938+24G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000513539
  gene symbol: HEXB
  hgvsc: ENST00000513539.1:n.332+24G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424939
  ensembl transcript: ENST00000509579
  gene symbol: HEXB
  hgvsc: ENST00000509579.1:c.50+24G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000261416
  ensembl transcript: ENST00000261416
  gene symbol: HEXB
  hgvsc: ENST00000261416.7:c.1613+24G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000426384
  ensembl transcript: ENST00000503312
  gene symbol: HEXB
  hgvsc: ENST00000503312.1:c.489+24G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000423713
  ensembl transcript: ENST00000513336
  gene symbol: HEXB
  hgvsc: ENST00000513336.1:c.549+24G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049860
  ensembl transcript: ENST00000504459
  gene symbol: HEXB
  hgvsc: ENST00000504459.1:n.834G>A
  variant of: http://identifiers.org/hgnc/4879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049860
  ensembl protein: ENSP00000424550
  ensembl transcript: ENST00000505859
  gene symbol: HEXB
  hgvsc: ENST00000505859.1:c.136+24G>A
  variant of: http://identifiers.org/hgnc/4879
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4096
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13366
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1952
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11210
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3090
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4744
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2691
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1661
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2869
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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DP
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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MQ
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FS
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VQSLOD
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QD
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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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bin: 8.25e1
variant carriers: 0

Latino
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allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
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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ReadPosRankSum
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QD
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FS
type: SiteQuality
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VQSLOD
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DP
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 7.33e-1

MQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.984e1

GenotypeQuality
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GenotypeQuality
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variant carriers: 8

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

African
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allele count: 8
allele frequency: 7.692307692307692e-4
allele num: 10400
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.954e1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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FS
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QD
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DP
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MQRankSum
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ClippingRankSum
type: SiteQuality
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

QD
type: SiteQuality
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DP
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e0

FS
type: SiteQuality
SIO_000300: 6.29e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
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InbreedingCoeff
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ClippingRankSum
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QD
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FS
type: SiteQuality
SIO_000300: 3.32e0

VQSLOD
type: SiteQuality
SIO_000300: 8.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: -2.018e0

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16512
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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FS
type: SiteQuality
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DP
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ClippingRankSum
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MQ
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele num: 8650
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Latino
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allele num: 11572
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Other
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South Asian
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African
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allele frequency: 0.0e0
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European (Finnish)
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European (Non-Finnish)
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VQSLOD
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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ReadPosRankSum
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MQ
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FS
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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66732
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South Asian
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African
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East Asian
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Latino
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European (Finnish)
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Other
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MQRankSum
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FS
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QD
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VQSLOD
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InbreedingCoeff
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DP
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BaseQRankSum
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MQ
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66730
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East Asian
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African
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European (Finnish)
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allele num: 6614
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Latino
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South Asian
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Other
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QD
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MQRankSum
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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InbreedingCoeff
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FS
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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66730
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Other
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South Asian
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Latino
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East Asian
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African
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European (Finnish)
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VQSLOD
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FS
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MQRankSum
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MQ
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QD
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ReadPosRankSum
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BaseQRankSum
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DP
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SIO_000300: 2.967753e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-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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variant carriers: 3

GenotypeQuality
all individuals: 1
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GenotypeQuality
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variant carriers: 0

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

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

Latino
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allele count: 2
allele frequency: 1.729206294310911e-4
allele num: 11566
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
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European (Finnish)
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allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 3.88e-1

FS
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.967753e6

VQSLOD
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ClippingRankSum
type: SiteQuality
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 8652
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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QD
type: SiteQuality
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MQ
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DP
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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FS
type: SiteQuality
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VQSLOD
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ClippingRankSum
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SIO_000300: -1.439e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8650
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997691777331455e-5
allele num: 66718
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Other
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allele count: 0
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num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.9e-1

BaseQRankSum
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DP
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QD
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2
allele frequency: 2.997691777331455e-5
allele num: 66718
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

Other
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.809e0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.05e-1

QD
type: SiteQuality
SIO_000300: 1.028e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.68e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 66720
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
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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Other
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num of homozygotes: 0

East Asian
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allele frequency: 1.156604210039325e-4
allele num: 8646
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African
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QD
type: SiteQuality
SIO_000300: 1.746e1

VQSLOD
type: SiteQuality
SIO_000300: -1.013e0

MQRankSum
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DP
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 7.11e0

FS
type: SiteQuality
SIO_000300: 2.868e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.84e-1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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African
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South Asian
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66720
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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FS
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MQ
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ClippingRankSum
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QD
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VQSLOD
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DP
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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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variant carriers: 0

African
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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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European (Finnish)
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Other
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MQRankSum
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
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ReadPosRankSum
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QD
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DP
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

European (Non-Finnish)
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allele num: 66712
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South Asian
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European (Finnish)
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Latino
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East Asian
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Other
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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QD
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MQ
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InbreedingCoeff
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FS
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BaseQRankSum
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DP
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MQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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num of homozygotes: 0

Latino
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East Asian
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South Asian
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African
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European (Non-Finnish)
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Other
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DP
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VQSLOD
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MQRankSum
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ReadPosRankSum
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MQ
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BaseQRankSum
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InbreedingCoeff
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QD
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FS
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ClippingRankSum
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SIO_000300: 2.66e0

GenotypeQuality
all individuals: 223
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40704
bin: 9.75e1
variant carriers: 96

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1655
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1923
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3025
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3081
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2590
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2877
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.513317191283293e-4
allele num: 6608
num of homozygotes: 0

South Asian
type: Population
allele count: 62
allele frequency: 3.75484496124031e-3
allele num: 16512
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 33
allele frequency: 4.947526236881559e-4
allele num: 66700
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.26e-1

DP
type: SiteQuality
SIO_000300: 2.969784e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.44e0

MQ
type: SiteQuality
SIO_000300: 6.017e1

QD
type: SiteQuality
SIO_000300: 1.835e1

GenotypeQuality
all individuals: 108
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37504
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7310
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1677
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1729
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.691800736576855e-5
allele num: 10318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
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: -4.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.784e0

QD
type: SiteQuality
SIO_000300: 9.56e0

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.43e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

VQSLOD
type: SiteQuality
SIO_000300: 2.28e0

FS
type: SiteQuality
SIO_000300: 1.586e0

DP
type: SiteQuality
SIO_000300: 2.25633e6

GenotypeQuality
all individuals: 249
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37606
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1702
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7267
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
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: 6602
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.693679720822024e-5
allele num: 10316
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.34e-1

QD
type: SiteQuality
SIO_000300: 1.244e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.090000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.34e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.741e1

DP
type: SiteQuality
SIO_000300: 2.255166e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.82e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e0

GenotypeQuality
all individuals: 1652
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1702
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7267
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500240038406145e-5
allele num: 66656
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: 8598
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: 4.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.82e0

MQRankSum
type: SiteQuality
SIO_000300: -1.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.090000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.741e1

QD
type: SiteQuality
SIO_000300: 1.244e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.34e-1

DP
type: SiteQuality
SIO_000300: 2.255166e6

GenotypeQuality
all individuals: 198
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9215
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 172
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1633
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7220
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37914
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1666
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 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: 8602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66662
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.54e0

FS
type: SiteQuality
SIO_000300: 3.206e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.99e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.848000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.209e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

DP
type: SiteQuality
SIO_000300: 2.25472e6

VQSLOD
type: SiteQuality
SIO_000300: -1.065e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.81e-1

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 187
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9211
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 456
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1629
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66646
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.206e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.261e0

DP
type: SiteQuality
SIO_000300: 2.254864e6

QD
type: SiteQuality
SIO_000300: 1.793e1

MQRankSum
type: SiteQuality
SIO_000300: 1.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.17e-1

GenotypeQuality
all individuals: 854
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1628
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7186
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 38090
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9209
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 451
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66652
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.946282600233554e-4
allele num: 10276
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
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: 6608
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.254867e6

FS
type: SiteQuality
SIO_000300: 3.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.513e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.97e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

QD
type: SiteQuality
SIO_000300: 1.119e1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.37e-1

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1601
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9203
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 101
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38270
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.164144353899884e-4
allele num: 8590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.003301815998799e-5
allele num: 66630
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: 1
allele frequency: 9.746588693957115e-5
allele num: 10260
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: 1
allele frequency: 8.673026886383348e-5
allele num: 11530
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.277e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.81e-1

DP
type: SiteQuality
SIO_000300: 2.255496e6

FS
type: SiteQuality
SIO_000300: 2.569e0

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

MQ
type: SiteQuality
SIO_000300: 5.982e1

VQSLOD
type: SiteQuality
SIO_000300: 3.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e-2

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: 10260
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.982e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e-2

FS
type: SiteQuality
SIO_000300: 2.569e0

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.8e-1

QD
type: SiteQuality
SIO_000300: 1.277e1

DP
type: SiteQuality
SIO_000300: 2.255496e6

VQSLOD
type: SiteQuality
SIO_000300: 3.27e0

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
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variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.5e0
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GenotypeQuality
all individuals: 167
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1601
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1619
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 827
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66630
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: 4
allele frequency: 3.469210754553339e-4
allele num: 11530
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.164144353899884e-4
allele num: 8590
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10260
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.27e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

QD
type: SiteQuality
SIO_000300: 1.277e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.81e-1

DP
type: SiteQuality
SIO_000300: 2.255496e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

FS
type: SiteQuality
SIO_000300: 2.569e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

GenotypeQuality
all individuals: 9203
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1619
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1601
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38270
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 827
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 5.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
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: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66630
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.746588693957115e-5
allele num: 10260
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.27e0

FS
type: SiteQuality
SIO_000300: 2.569e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

QD
type: SiteQuality
SIO_000300: 1.277e1

MQ
type: SiteQuality
SIO_000300: 5.982e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

DP
type: SiteQuality
SIO_000300: 2.255496e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.81e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.746588693957115e-5
allele num: 10260
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66630
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.8e-1

QD
type: SiteQuality
SIO_000300: 1.277e1

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e-2

FS
type: SiteQuality
SIO_000300: 2.569e0

DP
type: SiteQuality
SIO_000300: 2.255496e6

VQSLOD
type: SiteQuality
SIO_000300: 3.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.81e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

GenotypeQuality
all individuals: 132
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38489
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9170
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
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: 10256
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.050388643798205e-4
allele num: 66642
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

VQSLOD
type: SiteQuality
SIO_000300: 2.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

DP
type: SiteQuality
SIO_000300: 2.254544e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: -1.39e-1

FS
type: SiteQuality
SIO_000300: 5.47e-1

QD
type: SiteQuality
SIO_000300: 1.361e1

GenotypeQuality
all individuals: 78
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 823
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9170
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7154
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38489
bin: 6.25e1
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: 0
allele frequency: 0.0e0
allele num: 66642
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21197430614471e-4
allele num: 16502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.6e0

MQRankSum
type: SiteQuality
SIO_000300: -1.39e-1

FS
type: SiteQuality
SIO_000300: 5.47e-1

DP
type: SiteQuality
SIO_000300: 2.254544e6

QD
type: SiteQuality
SIO_000300: 1.361e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.39e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9214
bin: 9.75e1
variant carriers: 185

GenotypeQuality
all individuals: 811
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1586
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66676
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: 10280
num of homozygotes: 0

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

East Asian
type: Population
allele count: 184
allele frequency: 2.137049941927991e-2
allele num: 8610
num of homozygotes: 3

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.029935765361775e-4
allele num: 16502
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.58e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.064e0

FS
type: SiteQuality
SIO_000300: 5.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.57e0

DP
type: SiteQuality
SIO_000300: 2.254846e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.403e1

GenotypeQuality
all individuals: 98
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 813
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1612
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7178
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1589
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 9.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.161710037174721e-4
allele num: 8608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.12e1

VQSLOD
type: SiteQuality
SIO_000300: 9.14e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.8e-1

FS
type: SiteQuality
SIO_000300: 3.035e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.835e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

DP
type: SiteQuality
SIO_000300: 2.24983e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38968
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1616
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 78
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 426
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9042
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.156e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQRankSum
type: SiteQuality
SIO_000300: 2.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.13e0

FS
type: SiteQuality
SIO_000300: 4.426e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.57e-1

DP
type: SiteQuality
SIO_000300: 2.24975e6

GenotypeQuality
all individuals: 54
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38993
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7186
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 78
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 810
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1610
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.25e1
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: 1
allele frequency: 9.731413001167769e-5
allele num: 10276
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499925003749813e-5
allele num: 66670
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.249911e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

QD
type: SiteQuality
SIO_000300: 1.294e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.66e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 79
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7186
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1610
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9042
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 810
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1582
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.249911e6

MQRankSum
type: SiteQuality
SIO_000300: -6.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.2e-1

QD
type: SiteQuality
SIO_000300: 1.294e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
all individuals: 78
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1584
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7173
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9040
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 77
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1610
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 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: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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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: 8.670019074041963e-5
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BaseQRankSum
type: SiteQuality
SIO_000300: -5.46e-1

VQSLOD
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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MQ
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QD
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ClippingRankSum
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InbreedingCoeff
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FS
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SIO_000300: 1.359e0

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499565126113427e-5
allele num: 66686
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

South Asian
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allele frequency: 6.05913717886573e-5
allele num: 16504
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BaseQRankSum
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SIO_000300: 4.42e0

InbreedingCoeff
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MQRankSum
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FS
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DP
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VQSLOD
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ReadPosRankSum
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MQ
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SIO_000300: 5.969e1

ClippingRankSum
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SIO_000300: 3.19e-1

QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Other
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

InbreedingCoeff
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ClippingRankSum
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DP
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MQRankSum
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BaseQRankSum
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VQSLOD
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FS
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ReadPosRankSum
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QD
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MQ
type: SiteQuality
SIO_000300: 5.958e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 8.662508662508663e-5
allele num: 11544
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.792e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.23e0

InbreedingCoeff
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SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 7.346e0

QD
type: SiteQuality
SIO_000300: 1.246e1

VQSLOD
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DP
type: SiteQuality
SIO_000300: 2.251055e6

ReadPosRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

GenotypeQuality
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variant carriers: 1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 1.15606936416185e-4
allele num: 8650
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FS
type: SiteQuality
SIO_000300: 1.382e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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SIO_000300: 2.0e-4

ReadPosRankSum
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SIO_000300: 2.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.03e-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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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

Latino
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African
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East Asian
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allele frequency: 1.15606936416185e-4
allele num: 8650
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European (Finnish)
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Other
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South Asian
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MQ
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FS
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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QD
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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Latino
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East Asian
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European (Non-Finnish)
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South Asian
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Other
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MQ
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MQRankSum
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VQSLOD
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ReadPosRankSum
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DP
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InbreedingCoeff
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FS
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QD
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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East Asian
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European (Finnish)
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Latino
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African
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European (Non-Finnish)
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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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MQRankSum
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DP
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QD
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Latino
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European (Finnish)
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South Asian
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East Asian
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African
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Other
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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MQRankSum
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FS
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ReadPosRankSum
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QD
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MQ
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DP
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InbreedingCoeff
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SIO_000300: -1.0e-4

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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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
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: 1
allele frequency: 8.658008658008658e-5
allele num: 11550
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.8e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.769e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.163e0

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-1

FS
type: SiteQuality
SIO_000300: 3.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

QD
type: SiteQuality
SIO_000300: 1.403e1

DP
type: SiteQuality
SIO_000300: 2.251832e6

GenotypeQuality
all individuals: 20
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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
all individuals: 1574
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
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: 10396
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.4e-1

MQ
type: SiteQuality
SIO_000300: 5.992e1

DP
type: SiteQuality
SIO_000300: 2.251696e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

QD
type: SiteQuality
SIO_000300: 1.204e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
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: 11546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.913e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

QD
type: SiteQuality
SIO_000300: 1.387e1

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

DP
type: SiteQuality
SIO_000300: 2.251249e6

MQ
type: SiteQuality
SIO_000300: 5.905e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.07e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 5

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.495128166691651e-5
allele num: 66710
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.26e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

QD
type: SiteQuality
SIO_000300: 1.238e1

FS
type: SiteQuality
SIO_000300: 5.644e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-1

DP
type: SiteQuality
SIO_000300: 2.251177e6

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: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.250709e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.65e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

QD
type: SiteQuality
SIO_000300: 1.461e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.166e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 2.993e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.6e-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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 904
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
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: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.336e0

MQRankSum
type: SiteQuality
SIO_000300: -6.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.48e-1

FS
type: SiteQuality
SIO_000300: 1.23e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.385e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

DP
type: SiteQuality
SIO_000300: 2.250567e6

QD
type: SiteQuality
SIO_000300: 1.334e1

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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.498965237995261e-5
allele num: 66682
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: 3
allele frequency: 1.819725827975252e-4
allele num: 16486
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: 904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.250326e6

MQ
type: SiteQuality
SIO_000300: 5.935e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.33e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.15e-1

QD
type: SiteQuality
SIO_000300: 1.22e1

GenotypeQuality
all individuals: 3
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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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.312673450508788e-4
allele num: 8648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.73e-1

MQ
type: SiteQuality
SIO_000300: 5.91e1

VQSLOD
type: SiteQuality
SIO_000300: 6.76e-1

QD
type: SiteQuality
SIO_000300: 1.25e1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

FS
type: SiteQuality
SIO_000300: 1.981e0

DP
type: SiteQuality
SIO_000300: 2.249731e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 47
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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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: 1
allele frequency: 1.500420117632937e-5
allele num: 66648
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.334e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
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SIO_000300: 1.472e1

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.248064e6

MQ
type: SiteQuality
SIO_000300: 5.895e1

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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bin: 7.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501276084671971e-5
allele num: 66610
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e-1

FS
type: SiteQuality
SIO_000300: 5.945e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.26e-1

DP
type: SiteQuality
SIO_000300: 2.246016e6

QD
type: SiteQuality
SIO_000300: 1.558e1

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66554
num of homozygotes: 0

South Asian
type: Population
allele count: 18
allele frequency: 1.097159575764964e-3
allele num: 16406
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.44e-1

DP
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SIO_000300: 2.244374e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.45e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-2

QD
type: SiteQuality
SIO_000300: 1.386e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.964e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.01e0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66536
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.098304671301378e-5
allele num: 16398
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-1

QD
type: SiteQuality
SIO_000300: 1.264e1

VQSLOD
type: SiteQuality
SIO_000300: 3.17e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-1

DP
type: SiteQuality
SIO_000300: 2.242135e6

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-1

GenotypeQuality
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variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16384
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.745505323791238e-4
allele num: 11458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.88e-1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 9.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 3.138e0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

DP
type: SiteQuality
SIO_000300: 2.240828e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.68e-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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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16354
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.019563581640331e-5
allele num: 66450
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.12e-1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.3547e1

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 2.71e0

VQSLOD
type: SiteQuality
SIO_000300: -2.597e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.942e1

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16068
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.182592242194891e-4
allele num: 8456
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11240
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65660
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.21e-1

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 1.9e-1

BaseQRankSum
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SIO_000300: -1.605e0

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

African
type: Population
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allele frequency: 1.954270080125073e-4
allele num: 10234
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East Asian
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allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11216
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
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ClippingRankSum
type: SiteQuality
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QD
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DP
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BaseQRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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MQ
type: SiteQuality
SIO_000300: 5.911e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 1
allele frequency: 9.801999607920016e-5
allele num: 10202
num of homozygotes: 0

South Asian
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6534
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65404
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.938e1

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

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 5.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10174
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11142
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533554165133113e-5
allele num: 65208
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15942
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 2.525e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.327e0

VQSLOD
type: SiteQuality
SIO_000300: -3.241e0

DP
type: SiteQuality
SIO_000300: 2.160262e6

MQRankSum
type: SiteQuality
SIO_000300: -7.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.99e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.89e1

FS
type: SiteQuality
SIO_000300: 3.323e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 3
allele frequency: 2.95159386068477e-4
allele num: 10164
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15916
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11122
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 8.164999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

QD
type: SiteQuality
SIO_000300: 7.78e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.89e0

DP
type: SiteQuality
SIO_000300: 2.152721e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.1e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.672e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 4.984e1

GenotypeQuality
all individuals: 80
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 627
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.112937367700162e-5
allele num: 64248
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10032
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8244
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10894
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15740
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.1e-1

DP
type: SiteQuality
SIO_000300: 2.087781e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.377e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

VQSLOD
type: SiteQuality
SIO_000300: 2.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

QD
type: SiteQuality
SIO_000300: 1.67e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6718
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8240
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10018
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.842978252856616e-4
allele num: 10852
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15714
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 44
allele frequency: 6.865559855199101e-4
allele num: 64088
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.075359e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.6e-2

FS
type: SiteQuality
SIO_000300: 8.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.07e-1

QD
type: SiteQuality
SIO_000300: 1.408e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 596
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GenotypeQuality
all individuals: 79
bin: 1.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8142
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15570
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.577635440002524e-5
allele num: 63386
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9908
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.58e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.528e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.004554e6

QD
type: SiteQuality
SIO_000300: 9.970000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

GenotypeQuality
all individuals: 338
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.013376570733685e-4
allele num: 9868
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10628
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15546
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8102
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63170
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.981569e6

FS
type: SiteQuality
SIO_000300: 1.557e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 7.77e-1

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.03e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0