9-130630342-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630342
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630342
    reference: chr 9
allele count: 31
allele frequency: 2.563508864779042e-4
allele num: 120928
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.872G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*154G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.352G>A
  hgvsp: ENSP00000392314.1:p.Gly118Asp
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.578G>A
  hgvsp: ENSP00000223836.10:p.Gly193Asp
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.530G>A
  hgvsp: ENSP00000362249.1:p.Gly177Asp
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.530G>A
  hgvsp: ENSP00000362271.1:p.Gly177Asp
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6051
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14525
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3801
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11643
  bin: 9.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2558
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9312
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21441
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly177Asp
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD

9-130630350-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630350
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630350
    reference: chr 9
allele count: 3
allele frequency: 2.482868209355447e-5
allele num: 120828
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.864C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.522C>T
  hgvsp: ENST00000373176.1:c.522C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.570C>T
  hgvsp: ENST00000223836.10:c.570C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*146C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.344C>T
  hgvsp: ENST00000413016.1:c.344C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.522C>T
  hgvsp: ENST00000373156.1:c.522C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7306
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4064
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2555
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5059
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3794
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21179
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn174Asn
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

9-130630350-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630350
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630350
    reference: chr 9
allele count: 1
allele frequency: 8.276227364518158e-6
allele num: 120828
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.864C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.522C>A
  hgvsp: ENSP00000362249.1:p.Asn174Lys
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.570C>A
  hgvsp: ENSP00000223836.10:p.Asn190Lys
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.522C>A
  hgvsp: ENSP00000362271.1:p.Asn174Lys
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.344C>A
  hgvsp: ENSP00000392314.1:p.Asn115Lys
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*146C>A
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7306
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4064
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5059
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11618
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3794
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn174Lys
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ

9-130630360-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630360
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630360
    reference: chr 9
allele count: 1
allele frequency: 8.287613333112331e-6
allele num: 120662
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.517-5C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.859-5C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*141-5C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.517-5C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.565-5C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.339-5C>T
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5836
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4326
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20777
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5033
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4040
  bin: 7.25e1
  variant carriers: 0
hgvs: n.859-5C>T
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD

9-130630360-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630360
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630360
    reference: chr 9
allele count: 1
allele frequency: 8.287613333112331e-6
allele num: 120662
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.339-5C>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.517-5C>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*141-5C>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.517-5C>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.859-5C>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.565-5C>A
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4326
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5836
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3776
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4040
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11599
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2551
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1936
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
hgvs: n.859-5C>A
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

9-130630366-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630366
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630366
    reference: chr 9
allele count: 1
allele frequency: 8.297240337863626e-6
allele num: 120522
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.859-11T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.517-11T>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.517-11T>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.339-11T>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*141-11T>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.565-11T>A
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19554
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14173
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3995
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1933
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8970
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

9-130630371-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630371
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630371
    reference: chr 9
allele count: 2
allele frequency: 1.661129568106312e-5
allele num: 120400
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.517-16G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.339-16G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*141-16G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.565-16G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.517-16G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.859-16G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7067
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3908
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1926
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8615
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4918
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

9-130630372-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630372
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630372
    reference: chr 9
allele count: 1
allele frequency: 8.30813199960121e-6
allele num: 120364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.517-17G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.859-17G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.565-17G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.517-17G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*141-17G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.339-17G>A
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7041
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8590
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1144
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD

9-130630373-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630373
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630373
    reference: chr 9
allele count: 599
allele frequency: 4.977729025395559e-3
allele num: 120336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*141-18C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.517-18C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.565-18C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.859-18C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.517-18C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.339-18C>T
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 13570
  bin: 3.25e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7001
  bin: 3.75e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 5.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 4.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 4.75e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 19230
  bin: 2.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 5969
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 6.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 9.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 5.25e1
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 8512
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19778
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3681
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 15
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

9-130630379-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630379
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630379
    reference: chr 9
allele count: 1
allele frequency: 8.322375538873816e-6
allele num: 120158
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.565-24C>G
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.339-24C>G
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.859-24C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.517-24C>G
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*141-24C>G
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.517-24C>G
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6878
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11381
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2525
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1900
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3844
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

9-130630382-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630382
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630382
    reference: chr 9
allele count: 5
allele frequency: 4.164098805736463e-5
allele num: 120074
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.517-27C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.517-27C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.339-27C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.565-27C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*141-27C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.859-27C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4193
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6824
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2653
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11372
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3788
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8208
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4737
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3640
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

9-130630401-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630401
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630401
    reference: chr 9
allele count: 1
allele frequency: 8.379701012267883e-6
allele num: 119336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*141-46C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.517-46C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.339-46C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.859-46C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.565-46C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.517-46C>T
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6457
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9165
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6177
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2486
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1856
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1990
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1742
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2772
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2363
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11355
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3223
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS

9-130630553-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630553
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630553
    reference: chr 9
allele count: 1
allele frequency: 4.285591840233136e-5
allele num: 23334
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.858+47A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.516+47A>C
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*140+47A>C
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.338+47A>C
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.516+47A>C
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.564+47A>C
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16530
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28781
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3398
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6535
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5622
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7346
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7091
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

9-130630561-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630561
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630561
    reference: chr 9
allele count: 1
allele frequency: 4.289268250836407e-5
allele num: 23314
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.516+39G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.858+39G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.338+39G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.564+39G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*140+39G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.516+39G>A
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17018
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28491
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8651
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3191
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4494
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7349
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23667
  bin: 7.5e0
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

9-130630562-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630562
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630562
    reference: chr 9
allele count: 3
allele frequency: 1.281503630926954e-4
allele num: 23410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*140+38C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.516+38C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.338+38C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.516+38C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.858+38C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.564+38C>T
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17368
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28285
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5819
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2697
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9767
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3880
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/9-130630569-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630569
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630569
    reference: chr 9
allele count: 1
allele frequency: 4.235852253473399e-5
allele num: 23608
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.516+31G>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.338+31G>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*140+31G>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.564+31G>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.516+31G>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.858+31G>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27005
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23939
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7347
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3474
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12587
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4777
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1995
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: C
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

9-130630570-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630570
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630570
    reference: chr 9
allele count: 1
allele frequency: 4.230476351637195e-5
allele num: 23638
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.516+30G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.516+30G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.858+30G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.564+30G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.338+30G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*140+30G>A
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19474
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26683
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23836
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3040
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13426
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4558
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2003
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

9-130630571-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630571
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630571
    reference: chr 9
allele count: 120
allele frequency: 5.012950121146295e-3
allele num: 23938
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.564+29C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.516+29C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.516+29C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.858+29C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*140+29C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.338+29C>T
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20242
  bin: 7.5e0
  variant carriers: 142
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 25891
  bin: 2.5e0
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 1.25e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 4155
  bin: 1.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 23447
  bin: 7.5e0
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 2390
  bin: 1.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1743
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 8.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 8.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7449
  bin: 9.75e1
  variant carriers: 137
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

9-130630572-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630572
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630572
    reference: chr 9
allele count: 1
allele frequency: 4.162157662532257e-5
allele num: 24026
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*140+28C>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.516+28C>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.858+28C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.338+28C>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.516+28C>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.564+28C>A
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25599
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20634
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4110
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15485
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2643
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1438
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum

9-130630584-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630584
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630584
    reference: chr 9
allele count: 9
allele frequency: 3.558437450577257e-4
allele num: 25292
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.516+16C>G
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.564+16C>G
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.516+16C>G
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*140+16C>G
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.858+16C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.338+16C>G
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25226
  bin: 7.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4634
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19694
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3041
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

9-130630587-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630587
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630587
    reference: chr 9
allele count: 1
allele frequency: 3.848225967828831e-5
allele num: 25986
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.564+13G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.516+13G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.516+13G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.338+13G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*140+13G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.858+13G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20091
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18971
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21141
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2775
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

9-130630588-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630588
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630588
    reference: chr 9
allele count: 2
allele frequency: 7.639419404125286e-5
allele num: 26180
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.858+12G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*140+12G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.564+12G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.338+12G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.516+12G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.516+12G>A
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3092
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26653
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19582
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18574
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2634
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

9-130630589-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630589
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630589
    reference: chr 9
allele count: 28
allele frequency: 1.047198743361508e-3
allele num: 26738
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*140+11C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.516+11C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.516+11C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.564+11C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.858+11C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.338+11C>T
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18370
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27665
  bin: 7.5e0
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 1.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3429
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23484
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2382
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2526
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7552
  bin: 9.75e1
  variant carriers: 29
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

9-130630589-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630589
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630589
    reference: chr 9
allele count: 254
allele frequency: 9.499588600493679e-3
allele num: 26738
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*140+11C>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.338+11C>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.516+11C>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.516+11C>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.564+11C>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.858+11C>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3429
  bin: 9.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 18370
  bin: 2.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 1.25e1
  variant carriers: 93
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 27665
  bin: 7.5e0
  variant carriers: 160
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2526
  bin: 1.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 23484
  bin: 2.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 17483
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2382
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 7.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 8.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 7
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

9-130630590-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630590
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630590
    reference: chr 9
allele count: 1
allele frequency: 3.700962250185048e-5
allele num: 27020
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.338+10G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.516+10G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.564+10G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*140+10G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.858+10G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.516+10G>A
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28308
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17516
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24070
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2735
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2307
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7380
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16692
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

9-130630605-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630605
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630605
    reference: chr 9
allele count: 11
allele frequency: 3.158559696778269e-4
allele num: 34826
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.853C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.511C>T
  hgvsp: ENSP00000362249.1:p.Arg171Cys
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.559C>T
  hgvsp: ENSP00000223836.10:p.Arg187Cys
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.333C>T
  hgvsp: ENSP00000392314.1:p.Arg112Cys
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.511C>T
  hgvsp: ENSP00000362271.1:p.Arg171Cys
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*135C>T
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5629
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34168
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2216
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1901
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8129
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32348
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1507
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg171Cys
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: G
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum

9-130630610-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630610
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630610
    reference: chr 9
allele count: 5
allele frequency: 1.311578616022244e-4
allele num: 38122
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*130T>C
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.506T>C
  hgvsp: ENSP00000362271.1:p.Ile169Thr
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.554T>C
  hgvsp: ENSP00000223836.10:p.Ile185Thr
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.506T>C
  hgvsp: ENSP00000362249.1:p.Ile169Thr
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.328T>C
  hgvsp: ENSP00000392314.1:p.Ile110Thr
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.848T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5836
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33850
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5988
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile169Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

9-130630611-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630611
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630611
    reference: chr 9
allele count: 1
allele frequency: 2.594033722438392e-5
allele num: 38550
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*129A>G
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.327A>G
  hgvsp: ENSP00000392314.1:p.Ile110Val
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.505A>G
  hgvsp: ENSP00000362249.1:p.Ile169Val
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.505A>G
  hgvsp: ENSP00000362271.1:p.Ile169Val
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.553A>G
  hgvsp: ENSP00000223836.10:p.Ile185Val
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.847A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5844
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5853
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2222
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33937
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3231
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2143
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5683
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1306
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile169Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP

9-130630615-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630615
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630615
    reference: chr 9
allele count: 3
allele frequency: 7.175316909830184e-5
allele num: 41810
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.501T>C
  hgvsp: ENST00000373156.1:c.501T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.549T>C
  hgvsp: ENST00000223836.10:c.549T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.323T>C
  hgvsp: ENST00000413016.1:c.323T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*125T>C
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.501T>C
  hgvsp: ENST00000373176.1:c.501T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.843T>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34903
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6186
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4388
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4583
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4145
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33873
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7397
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2279
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg167Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

9-130630617-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630617
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630617
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 43470
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*123C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.499C>T
  hgvsp: ENSP00000362271.1:p.Arg167Cys
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.321C>T
  hgvsp: ENSP00000392314.1:p.Arg108Cys
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.841C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.499C>T
  hgvsp: ENSP00000362249.1:p.Arg167Cys
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.547C>T
  hgvsp: ENSP00000223836.10:p.Arg183Cys
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34600
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3922
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33655
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3861
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2298
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2284
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg167Cys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

9-130630618-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630618
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630618
    reference: chr 9
allele count: 2
allele frequency: 4.471472008585226e-5
allele num: 44728
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.840A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.498A>G
  hgvsp: ENST00000373156.1:c.498A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.498A>G
  hgvsp: ENST00000373176.1:c.498A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*122A>G
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.320A>G
  hgvsp: ENST00000413016.1:c.320A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.546A>G
  hgvsp: ENST00000223836.10:c.546A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5681
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6202
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3627
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3566
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5348
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33611
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys166Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

9-130630623-CAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630623
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630621
    reference: chr 9
allele count: 1
allele frequency: 2.044320876604792e-5
allele num: 48916
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.539_540delAT
  hgvsp: ENSP00000223836.10:p.Tyr180Ter
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.491_492delAT
  hgvsp: ENSP00000362249.1:p.Tyr164Ter
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.491_492delAT
  hgvsp: ENSP00000362271.1:p.Tyr164Ter
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*115_*116delAT
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.833_834delAT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.313_314delAT
  hgvsp: ENSP00000392314.1:p.Tyr105Ter
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2305
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7398
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Tyr164Ter
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: CAT
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

9-130630631-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630631
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630631
    reference: chr 9
allele count: 1
allele frequency: 1.757283941939339e-5
allele num: 56906
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.485C>T
  hgvsp: ENSP00000362271.1:p.Ala162Val
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.533C>T
  hgvsp: ENSP00000223836.10:p.Ala178Val
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.827C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.485C>T
  hgvsp: ENSP00000362249.1:p.Ala162Val
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*109C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.307C>T
  hgvsp: ENSP00000392314.1:p.Ala103Val
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5681
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29911
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2270
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2024
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala162Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

9-130630632-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630632
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630632
    reference: chr 9
allele count: 620
allele frequency: 1.059032522547144e-2
allele num: 58544
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.306G>A
  hgvsp: ENSP00000392314.1:p.Ala103Thr
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.484G>A
  hgvsp: ENSP00000362271.1:p.Ala162Thr
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.826G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*108G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.484G>A
  hgvsp: ENSP00000362249.1:p.Ala162Thr
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.532G>A
  hgvsp: ENSP00000223836.10:p.Ala178Thr
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 1.25e1
  variant carriers: 129
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 1.75e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 2.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 2.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12077
  bin: 2.25e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29356
  bin: 7.5e0
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 3553
  bin: 9.75e1
  variant carriers: 237
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1952
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10846
  bin: 6.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1571
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2205
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 6.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 5.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 7.75e1
  variant carriers: 4
hgvs: p.Ala162Thr
num of homozygotes: 9
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum

9-130630633-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630633
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630633
    reference: chr 9
allele count: 6
allele frequency: 9.775171065493646e-5
allele num: 61380
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.825C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.483C>T
  hgvsp: ENST00000373176.1:c.483C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.305C>T
  hgvsp: ENST00000413016.1:c.305C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.483C>T
  hgvsp: ENST00000373156.1:c.483C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*107C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.531C>T
  hgvsp: ENST00000223836.10:c.531C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5642
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28291
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3553
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13316
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12224
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28130
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2211
  bin: 3.25e1
  variant carriers: 1
hgvs: p.Ile161Ile
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: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/9-130630638-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630638
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630637
    reference: chr 9
allele count: 1
allele frequency: 1.495886312640239e-5
allele num: 66850
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.819delT
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.477delT
  hgvsp: ENSP00000362271.1:p.Val160SerfsTer34
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.525delT
  hgvsp: ENSP00000223836.10:p.Val176SerfsTer34
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*101delT
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.477delT
  hgvsp: ENSP00000362249.1:p.Val160SerfsTer34
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.299delT
  hgvsp: ENSP00000392314.1:p.Val101SerfsTer34
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3553
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5438
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25915
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7465
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14243
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25797
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val160SerfsTer34
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: CA
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

9-130630639-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630639
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630639
    reference: chr 9
allele count: 112748
allele frequency: 9.994504033330378e-1
allele num: 112810
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.477T>C
  hgvsp: ENST00000373156.1:c.477T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.819T>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*101T>C
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.299T>C
  hgvsp: ENST00000413016.1:c.299T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.477T>C
  hgvsp: ENST00000373176.1:c.477T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.525T>C
  hgvsp: ENST00000223836.10:c.525T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 178
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 171
genotype depth: GenotypeDepth
  all individuals: 5545
  bin: 2.75e1
  variant carriers: 5545
genotype depth: GenotypeDepth
  all individuals: 11175
  bin: 2.25e1
  variant carriers: 11175
genotype depth: GenotypeDepth
  all individuals: 3902
  bin: 7.5e0
  variant carriers: 3899
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.75e1
  variant carriers: 225
genotype depth: GenotypeDepth
  all individuals: 11476
  bin: 1.25e1
  variant carriers: 11476
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 2.5e0
  variant carriers: 218
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 3.75e1
  variant carriers: 1010
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 210
genotype depth: GenotypeDepth
  all individuals: 15098
  bin: 1.75e1
  variant carriers: 15098
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 173
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 4.75e1
  variant carriers: 338
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 193
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 229
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 180
genotype depth: GenotypeDepth
  all individuals: 7328
  bin: 9.75e1
  variant carriers: 7328
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 442
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 3.25e1
  variant carriers: 2294
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.25e1
  variant carriers: 257
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 9.25e1
  variant carriers: 1146
genotype quality: GenotypeQuality
  all individuals: 1785
  bin: 2.25e1
  variant carriers: 1785
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 2.75e1
  variant carriers: 1379
genotype quality: GenotypeQuality
  all individuals: 12056
  bin: 9.75e1
  variant carriers: 12056
genotype quality: GenotypeQuality
  all individuals: 4931
  bin: 3.75e1
  variant carriers: 4931
genotype quality: GenotypeQuality
  all individuals: 2866
  bin: 5.75e1
  variant carriers: 2866
genotype quality: GenotypeQuality
  all individuals: 2974
  bin: 4.25e1
  variant carriers: 2974
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 1.75e1
  variant carriers: 812
genotype quality: GenotypeQuality
  all individuals: 2021
  bin: 8.25e1
  variant carriers: 2021
genotype quality: GenotypeQuality
  all individuals: 5099
  bin: 6.25e1
  variant carriers: 5099
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 1809
  bin: 7.25e1
  variant carriers: 1809
hgvs: p.Pro159Pro
num of homozygotes: 56343
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

9-130630642-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630642
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630642
    reference: chr 9
allele count: 1
allele frequency: 9.65269599799224e-6
allele num: 103598
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*98A>C
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.474A>C
  hgvsp: ENSP00000362249.1:p.Glu158Asp
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.816A>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.474A>C
  hgvsp: ENSP00000362271.1:p.Glu158Asp
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.522A>C
  hgvsp: ENSP00000223836.10:p.Glu174Asp
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.296A>C
  hgvsp: ENSP00000392314.1:p.Glu99Asp
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10435
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11800
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13630
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2342
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3047
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4157
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10596
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3358
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14578
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu158Asp
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

9-130630660-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630660
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630660
    reference: chr 9
allele count: 2
allele frequency: 1.947950755804893e-5
allele num: 102672
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.456C>A
  hgvsp: ENST00000373156.1:c.456C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*80C>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.798C>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.456C>A
  hgvsp: ENST00000373176.1:c.456C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.504C>A
  hgvsp: ENST00000223836.10:c.504C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.278C>A
  hgvsp: ENST00000413016.1:c.278C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6064
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8899
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19074
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9829
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7425
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2839
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21640
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3058
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3064
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2211
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1581
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5852
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Thr152Thr
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

9-130630666-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630666
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630666
    reference: chr 9
allele count: 1
allele frequency: 9.781481698847741e-6
allele num: 102234
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.450G>A
  hgvsp: ENST00000373176.1:c.450G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.450G>A
  hgvsp: ENST00000373156.1:c.450G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.272G>A
  hgvsp: ENST00000413016.1:c.272G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.498G>A
  hgvsp: ENST00000223836.10:c.498G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.792G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*74G>A
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4821
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20226
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2147
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2548
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23426
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12468
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu150Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

9-130630670-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630670
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630670
    reference: chr 9
allele count: 1
allele frequency: 9.816047274083672e-6
allele num: 101874
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.788G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.446G>A
  hgvsp: ENSP00000362271.1:p.Arg149Gln
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.494G>A
  hgvsp: ENSP00000223836.10:p.Arg165Gln
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.268G>A
  hgvsp: ENSP00000392314.1:p.Arg90Gln
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.446G>A
  hgvsp: ENSP00000362249.1:p.Arg149Gln
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*70G>A
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20934
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9318
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8988
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5851
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2237
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2073
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg149Gln
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

9-130630695-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630695
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630695
    reference: chr 9
allele count: 1
allele frequency: 1.041211136794319e-5
allele num: 96042
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.469G>A
  hgvsp: ENSP00000223836.10:p.Asp157Asn
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.763G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*45G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.243G>A
  hgvsp: ENSP00000392314.1:p.Asp82Asn
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.421G>A
  hgvsp: ENSP00000362249.1:p.Asp141Asn
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.421G>A
  hgvsp: ENSP00000362271.1:p.Asp141Asn
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12046
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18178
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9618
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21553
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2330
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17289
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp141Asn
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD

9-130630696-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630696
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630696
    reference: chr 9
allele count: 3
allele frequency: 3.127215110703415e-5
allele num: 95932
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.420C>T
  hgvsp: ENST00000373156.1:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.420C>T
  hgvsp: ENST00000373176.1:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.468C>T
  hgvsp: ENST00000223836.10:c.468C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.762C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*44C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.242C>T
  hgvsp: ENST00000413016.1:c.242C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8145
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9579
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5848
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2082
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2439
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2297
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17429
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22403
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp140Asp
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD

9-130630703-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630703
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630703
    reference: chr 9
allele count: 1
allele frequency: 1.079097874177188e-5
allele num: 92670
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.755G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.461G>A
  hgvsp: ENSP00000223836.10:p.Arg154His
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.413G>A
  hgvsp: ENSP00000362249.1:p.Arg138His
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.235G>A
  hgvsp: ENSP00000392314.1:p.Arg79His
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*37G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.413G>A
  hgvsp: ENSP00000362271.1:p.Arg138His
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10569
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13613
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3632
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2422
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5846
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19697
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2260
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18840
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg138His
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS

9-130630707-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630707
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630707
    reference: chr 9
allele count: 6
allele frequency: 6.583567415730337e-5
allele num: 91136
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.409G>A
  hgvsp: ENSP00000362271.1:p.Gly137Arg
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.409G>A
  hgvsp: ENSP00000362249.1:p.Gly137Arg
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.231G>A
  hgvsp: ENSP00000392314.1:p.Gly78Arg
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.751G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.457G>A
  hgvsp: ENSP00000223836.10:p.Gly153Arg
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*33G>A
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15095
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14283
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10923
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20740
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2286
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18706
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly137Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

9-130630708-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630708
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630708
    reference: chr 9
allele count: 6
allele frequency: 6.635406529240025e-5
allele num: 90424
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.408C>T
  hgvsp: ENST00000373176.1:c.408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.408C>T
  hgvsp: ENST00000373156.1:c.408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*32C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.230C>T
  hgvsp: ENST00000413016.1:c.230C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.750C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.456C>T
  hgvsp: ENST00000223836.10:c.456C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14889
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3529
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11016
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14492
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21076
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2051
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2371
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2288
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5847
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser136Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

9-130630708-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630708
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630708
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 90424
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.456C>A
  hgvsp: ENSP00000223836.10:p.Ser152Arg
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.408C>A
  hgvsp: ENSP00000362249.1:p.Ser136Arg
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*32C>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.230C>A
  hgvsp: ENSP00000392314.1:p.Ser77Arg
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.750C>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.408C>A
  hgvsp: ENSP00000362271.1:p.Ser136Arg
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: missense
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3529
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14492
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11016
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7226
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21076
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2051
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18499
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser136Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

9-130630712-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630712
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630712
    reference: chr 9
allele count: 1
allele frequency: 1.135176860554874e-5
allele num: 88092
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.226C>T
  hgvsp: ENSP00000392314.1:p.Thr76Ile
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*28C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.746C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.404C>T
  hgvsp: ENSP00000362271.1:p.Thr135Ile
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.404C>T
  hgvsp: ENSP00000362249.1:p.Thr135Ile
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.452C>T
  hgvsp: ENSP00000223836.10:p.Thr151Ile
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15728
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11887
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2520
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5843
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15853
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22821
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2387
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr135Ile
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

9-130630722-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630722
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630722
    reference: chr 9
allele count: 2
allele frequency: 2.384415460549846e-5
allele num: 83878
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.394C>T
  hgvsp: ENSP00000362249.1:p.Arg132Cys
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*18C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.216C>T
  hgvsp: ENSP00000392314.1:p.Arg73Cys
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.442C>T
  hgvsp: ENSP00000223836.10:p.Arg148Cys
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.394C>T
  hgvsp: ENSP00000362271.1:p.Arg132Cys
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.736C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12842
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2392
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14433
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 4.25e1
  variant carriers: 1
hgvs: p.Arg132Cys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

9-130630730-AGCCGCTGGGTCATGGTCTCAGG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630730
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630708
    reference: chr 9
allele count: 1
allele frequency: 1.253698410310416e-5
allele num: 79764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: coding_sequence_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000448741
  ensembl transcript: ENST00000550992
  gene symbol: AK1
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsp: ENSP00000362271.1:p.Pro122SerfsTer2
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsp: ENSP00000223836.10:p.Pro138SerfsTer2
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsp: ENSP00000392314.1:p.Pro63SerfsTer2
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsp: ENSP00000362249.1:p.Pro122SerfsTer2
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 9039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19375
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13873
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27972
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2500
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro122SerfsTer2
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: AGCCGCTGGGTCATGGTCTCAGG
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

9-130630736-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630736
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630736
    reference: chr 9
allele count: 1
allele frequency: 1.325451316173157e-5
allele num: 75446
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.202A>G
  hgvsp: ENSP00000392314.1:p.Gln68Arg
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.380A>G
  hgvsp: ENSP00000362249.1:p.Gln127Arg
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.380A>G
  hgvsp: ENSP00000362271.1:p.Gln127Arg
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.*4A>G
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.428A>G
  hgvsp: ENSP00000223836.10:p.Gln143Arg
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.722A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3437
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21076
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14692
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1748
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1350
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30060
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2637
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9174
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln127Arg
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/9-130630747-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630747
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630747
    reference: chr 9
allele count: 1
allele frequency: 1.460109800256979e-5
allele num: 68488
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.191G>T
  hgvsp: ENSP00000392314.1:p.Glu64Asp
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.369G>T
  hgvsp: ENSP00000362249.1:p.Glu123Asp
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.711G>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000448741
  ensembl transcript: ENST00000550992
  gene symbol: AK1
  hgvsc: ENST00000550992.1:c.*389G>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.369G>T
  hgvsp: ENSP00000362271.1:p.Glu123Asp
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.417G>T
  hgvsp: ENSP00000223836.10:p.Glu139Asp
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.149G>T
  hgvsp: ENSP00000449130.1:p.Arg50Ile
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4559
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6095
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2849
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2495
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32113
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu123Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

9-130630747-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630747
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630747
    reference: chr 9
allele count: 1
allele frequency: 1.460109800256979e-5
allele num: 68488
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.369G>C
  hgvsp: ENSP00000362271.1:p.Glu123Asp
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.149G>C
  hgvsp: ENSP00000449130.1:p.Arg50Thr
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.417G>C
  hgvsp: ENSP00000223836.10:p.Glu139Asp
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.191G>C
  hgvsp: ENSP00000392314.1:p.Glu64Asp
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.711G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.369G>C
  hgvsp: ENSP00000362249.1:p.Glu123Asp
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000448741
  ensembl transcript: ENST00000550992
  gene symbol: AK1
  hgvsc: ENST00000550992.1:c.*389G>C
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4559
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2495
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1490
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu123Asp
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

9-130630749-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630749
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630749
    reference: chr 9
allele count: 3940
allele frequency: 5.904390828712723e-2
allele num: 66730
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.147G>C
  hgvsp: ENST00000550143.1:c.147G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.189G>C
  hgvsp: ENSP00000392314.1:p.Glu64Gln
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.367G>C
  hgvsp: ENSP00000362271.1:p.Glu123Gln
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.709G>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000448741
  ensembl transcript: ENST00000550992
  gene symbol: AK1
  hgvsc: ENST00000550992.1:c.*387G>C
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.415G>C
  hgvsp: ENSP00000223836.10:p.Glu139Gln
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.367G>C
  hgvsp: ENSP00000362249.1:p.Glu123Gln
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 1.75e1
  variant carriers: 878
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 2.5e0
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 4.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 4.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 3.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 23668
  bin: 7.5e0
  variant carriers: 471
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 5.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 15345
  bin: 1.25e1
  variant carriers: 1201
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 6.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 2.75e1
  variant carriers: 130
genotype depth: GenotypeDepth
  all individuals: 4092
  bin: 2.25e1
  variant carriers: 378
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 3.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 9.75e1
  variant carriers: 546
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.75e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 91
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 3.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 2125
  bin: 2.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 9.25e1
  variant carriers: 87
genotype quality: GenotypeQuality
  all individuals: 3190
  bin: 7.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 8435
  bin: 9.75e1
  variant carriers: 3707
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 4.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 5.75e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 4.25e1
  variant carriers: 15
hgvs: p.Glu123Gln
num of homozygotes: 139
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum

9-130630774-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630774
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630774
    reference: chr 9
allele count: 1
allele frequency: 2.06058108386565e-5
allele num: 48530
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.342G>A
  hgvsp: ENST00000373156.1:c.342G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.684G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000448741
  ensembl transcript: ENST00000550992
  gene symbol: AK1
  hgvsc: ENST00000550992.1:c.*362G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.142-20G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.390G>A
  hgvsp: ENST00000223836.10:c.390G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.164G>A
  hgvsp: ENST00000413016.1:c.164G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.342G>A
  hgvsp: ENST00000373176.1:c.342G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12122
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26965
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8845
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2192
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2808
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9195
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu114Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP

9-130630776-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630776
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630776
    reference: chr 9
allele count: 1
allele frequency: 2.126121529106604e-5
allele num: 47034
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.340C>T
  hgvsp: ENST00000373176.1:c.340C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000448741
  ensembl transcript: ENST00000550992
  gene symbol: AK1
  hgvsc: ENST00000550992.1:c.*360C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.162C>T
  hgvsp: ENST00000413016.1:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.388C>T
  hgvsp: ENST00000223836.10:c.388C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.682C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.142-22C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.340C>T
  hgvsp: ENST00000373156.1:c.340C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11628
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26751
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9817
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31232
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu114Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

9-130630799-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630799
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630799
    reference: chr 9
allele count: 1
allele frequency: 2.905625290562529e-5
allele num: 34416
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.147-8G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.325-8G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.325-8G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.373-8G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.142-45G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.667-8G>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000448741
  ensembl transcript: ENST00000550992
  gene symbol: AK1
  hgvsc: ENST00000550992.1:c.*345-8G>A
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19731
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22533
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6794
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20014
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22246
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 3.25e1
  variant carriers: 0
hgvs: n.667-8G>A
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

9-130630800-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630800
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630800
    reference: chr 9
allele count: 94
allele frequency: 2.776957163958641e-3
allele num: 33850
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.147-9C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.325-9C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.142-46C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.373-9C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000448741
  ensembl transcript: ENST00000550992
  gene symbol: AK1
  hgvsc: ENST00000550992.1:c.*345-9C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.667-9C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.325-9C>T
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6557
  bin: 1.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 22241
  bin: 7.5e0
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20243
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1864
  bin: 6.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2411
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5585
  bin: 9.75e1
  variant carriers: 113
genotype quality: GenotypeQuality
  all individuals: 20505
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 4
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS

http://identifiers.org/exac.variant/9-130630807-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630807
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630807
    reference: chr 9
allele count: 1
allele frequency: 3.210272873194221e-5
allele num: 31150
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.325-16T>G
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.147-16T>G
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.667-16T>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.142-53T>G
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.373-16T>G
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000448741
  ensembl transcript: ENST00000550992
  gene symbol: AK1
  hgvsc: ENST00000550992.1:c.*345-16T>G
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.325-16T>G
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20007
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23633
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5263
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2138
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18542
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

9-130630824-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630824
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630824
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 25992
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.325-33A>G
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.142-70A>G
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000448741
  ensembl transcript: ENST00000550992
  gene symbol: AK1
  hgvsc: ENST00000550992.1:c.*345-33A>G
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.373-33A>G
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.147-33A>G
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.667-33A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.325-33A>G
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29440
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15078
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4299
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2003
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1406
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28784
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD

9-130630828-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630828
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630828
    reference: chr 9
allele count: 1
allele frequency: 4.032908533634457e-5
allele num: 24796
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.147-37A>G
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.325-37A>G
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000448741
  ensembl transcript: ENST00000550992
  gene symbol: AK1
  hgvsc: ENST00000550992.1:c.*345-37A>G
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.667-37A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.142-74A>G
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.373-37A>G
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.325-37A>G
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29910
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14609
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2537
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5482
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3117
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28429
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5007
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD

9-130630830-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630830
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630830
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 23784
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000448741
  ensembl transcript: ENST00000550992
  gene symbol: AK1
  hgvsc: ENST00000550992.1:c.*345-39G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.325-39G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.147-39G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.667-39G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.142-76G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.373-39G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.325-39G>A
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14578
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29915
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4430
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5238
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD

9-130630836-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130630836
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130630836
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 23206
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.325-45T>C
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000448741
  ensembl transcript: ENST00000550992
  gene symbol: AK1
  hgvsc: ENST00000550992.1:c.*345-45T>C
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.147-45T>C
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.667-45T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.373-45T>C
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.142-82T>C
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.325-45T>C
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14417
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5131
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3754
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4459
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26302
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 6.25e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

9-130631702-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130631702
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130631702
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 8
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.142-948G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.325-911G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.147-911G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000448741
  ensembl transcript: ENST00000550992
  gene symbol: AK1
  hgvsc: ENST00000550992.1:c.*345-911G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.373-911G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000263979
  ensembl transcript: ENST00000583126
  gene symbol: MIR4672
  hgvsc: ENST00000583126.1:n.73G>A
  variant of: http://identifiers.org/hgnc/41662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.325-911G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.667-911G>A
canonical: true
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 2.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum

9-130634055-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130634055
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130634055
    reference: chr 9
allele count: 33
allele frequency: 2.723041885335182e-4
allele num: 121188
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.666+47A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.146+47A>G
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.141+47A>G
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.372+47A>G
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000448741
  ensembl transcript: ENST00000550992
  gene symbol: AK1
  hgvsc: ENST00000550992.1:c.*344+47A>G
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.324+47A>G
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.324+47A>G
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3712
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14226
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13127
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8712
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3637
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

9-130634055-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130634055
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130634056
    reference: chr 9
allele count: 3
allele frequency: 2.475492623031983e-5
allele num: 121188
alternate allele: TA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.324+46dupT
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000448741
  ensembl transcript: ENST00000550992
  gene symbol: AK1
  hgvsc: ENST00000550992.1:c.*344+46dupT
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.666+46dupT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.141+46dupT
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.324+46dupT
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.372+46dupT
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.146+46dupT
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16940
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3637
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8712
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

9-130634057-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130634057
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130634057
    reference: chr 9
allele count: 3
allele frequency: 2.47537006782514e-5
allele num: 121194
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.324+45A>C
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.666+45A>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000448741
  ensembl transcript: ENST00000550992
  gene symbol: AK1
  hgvsc: ENST00000550992.1:c.*344+45A>C
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.324+45A>C
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.141+45A>C
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.372+45A>C
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.146+45A>C
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13119
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9022
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3700
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15191
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

9-130634065-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130634065
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130634065
    reference: chr 9
allele count: 1
allele frequency: 8.250961236984109e-6
allele num: 121198
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.666+37G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.372+37G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.146+37G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.141+37G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000448741
  ensembl transcript: ENST00000550992
  gene symbol: AK1
  hgvsc: ENST00000550992.1:c.*344+37G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.324+37G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.324+37G>A
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13126
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9010
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5928
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5413
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4534
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15173
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2038
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8701
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

9-130634075-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130634075
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130634075
    reference: chr 9
allele count: 45
allele frequency: 3.712074967416231e-4
allele num: 121226
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.372+27C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.141+27C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000448741
  ensembl transcript: ENST00000550992
  gene symbol: AK1
  hgvsc: ENST00000550992.1:c.*344+27C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.666+27C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.324+27C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.146+27C>T
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.324+27C>T
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14453
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8999
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13132
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5920
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 15182
  bin: 9.75e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 5414
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4533
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3623
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP

9-130634080-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130634080
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130634080
    reference: chr 9
allele count: 1
allele frequency: 8.248375070111188e-6
allele num: 121236
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.324+22G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.372+22G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.666+22G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.141+22G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.324+22G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000448741
  ensembl transcript: ENST00000550992
  gene symbol: AK1
  hgvsc: ENST00000550992.1:c.*344+22G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.146+22G>A
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3699
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9003
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5918
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13156
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17730
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5414
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

9-130634081-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130634081
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130634081
    reference: chr 9
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.324+21G>C
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.146+21G>C
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.666+21G>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000448741
  ensembl transcript: ENST00000550992
  gene symbol: AK1
  hgvsc: ENST00000550992.1:c.*344+21G>C
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.141+21G>C
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.372+21G>C
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.324+21G>C
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9003
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5922
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15147
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17739
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff

9-130634086-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130634086
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130634086
    reference: chr 9
allele count: 1
allele frequency: 8.24715060946443e-6
allele num: 121254
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.324+16A>G
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.666+16A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.141+16A>G
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000448741
  ensembl transcript: ENST00000550992
  gene symbol: AK1
  hgvsc: ENST00000550992.1:c.*344+16A>G
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.146+16A>G
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.372+16A>G
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.324+16A>G
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13163
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3699
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9003
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3630
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2031
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8724
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum

9-130634103-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130634103
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130634103
    reference: chr 9
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000223836
  ensembl transcript: ENST00000223836
  gene symbol: AK1
  hgvsc: ENST00000223836.10:c.371G>A
  hgvsp: ENSP00000223836.10:p.Arg124Gln
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000448741
  ensembl transcript: ENST00000550992
  gene symbol: AK1
  hgvsc: ENST00000550992.1:c.*343G>A
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000257524
  ensembl transcript: ENST00000476274
  gene symbol: RP11-203J24.9
  hgvsc: ENST00000476274.2:n.665G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362271
  ensembl transcript: ENST00000373176
  gene symbol: AK1
  hgvsc: ENST00000373176.1:c.323G>A
  hgvsp: ENSP00000362271.1:p.Arg108Gln
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000392314
  ensembl transcript: ENST00000413016
  gene symbol: AK1
  hgvsc: ENST00000413016.1:c.145G>A
  hgvsp: ENSP00000392314.1:p.Arg49Gln
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000449130
  ensembl transcript: ENST00000550143
  gene symbol: AK1
  hgvsc: ENST00000550143.1:c.140G>A
  hgvsp: ENSP00000449130.1:p.Arg47Gln
  variant of: http://identifiers.org/hgnc/361
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000106992
  ensembl protein: ENSP00000362249
  ensembl transcript: ENST00000373156
  gene symbol: AK1
  hgvsc: ENST00000373156.1:c.323G>A
  hgvsp: ENSP00000362249.1:p.Arg108Gln
  variant of: http://identifiers.org/hgnc/361
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5920
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4058
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg108Gln
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1947
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5071
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4079
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.646922631680494e-5
allele num: 10366
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 27
allele frequency: 4.05685608678667e-4
allele num: 66554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.681647940074906e-4
allele num: 6408
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.42e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.017e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
SIO_000300: 5.590000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.044494e6

QD
type: SiteQuality
SIO_000300: 1.289e1

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

GenotypeQuality
all individuals: 527
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1944
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11618
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 9282
bin: 6.75e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.510599909788002e-5
allele num: 66510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.039795e6

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.597e0

MQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-1

QD
type: SiteQuality
SIO_000300: 1.243e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.912e1

FS
type: SiteQuality
SIO_000300: 1.169e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.65e-1

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

GenotypeQuality
all individuals: 164
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9282
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2555
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21179
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1944
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6368
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.650646593321752e-5
allele num: 10362
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

FS
type: SiteQuality
SIO_000300: 1.169e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.597e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

DP
type: SiteQuality
SIO_000300: 2.039795e6

QD
type: SiteQuality
SIO_000300: 1.243e1

MQ
type: SiteQuality
SIO_000300: 5.912e1

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9166
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1936
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3776
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2551
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11599
bin: 9.75e1
variant carriers: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6330
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505343971097396e-5
allele num: 66430
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.071e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

FS
type: SiteQuality
SIO_000300: 1.862e0

DP
type: SiteQuality
SIO_000300: 2.031727e6

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

MQRankSum
type: SiteQuality
SIO_000300: 6.899999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.211e1

GenotypeQuality
all individuals: 20777
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 2.75e1
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: 0
allele frequency: 0.0e0
allele num: 66430
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6330
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.671179883945841e-5
allele num: 10340
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.031727e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 1.211e1

MQRankSum
type: SiteQuality
SIO_000300: 6.899999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.862e0

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.071e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.84e-1

GenotypeQuality
all individuals: 169
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2549
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11590
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4995
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507068149621726e-5
allele num: 66354
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6302
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.63e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.32e-1

FS
type: SiteQuality
SIO_000300: 3.367e0

DP
type: SiteQuality
SIO_000300: 2.020447e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.73e-1

QD
type: SiteQuality
SIO_000300: 1.61e1

MQ
type: SiteQuality
SIO_000300: 5.966e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.67e-1

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
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variant carriers: 0

GenotypeQuality
all individuals: 11583
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3739
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20163
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.736412571627018e-4
allele num: 11518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6288
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66284
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

QD
type: SiteQuality
SIO_000300: 1.234e1

DP
type: SiteQuality
SIO_000300: 2.008491e6

MQRankSum
type: SiteQuality
SIO_000300: 6.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.52e-1

FS
type: SiteQuality
SIO_000300: 4.189e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.575e0

GenotypeQuality
all individuals: 600
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11577
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2536
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3904
bin: 7.25e1
variant carriers: 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: 880
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.16144018583043e-4
allele num: 8610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66266
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6292
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.72e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.004517e6

VQSLOD
type: SiteQuality
SIO_000300: 3.65e0

QD
type: SiteQuality
SIO_000300: 1.192e1

GenotypeQuality
all individuals: 1894
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11814
bin: 9.75e1
variant carriers: 580

GenotypeQuality
all individuals: 2513
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3864
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4846
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.819063788503517e-4
allele num: 16492
num of homozygotes: 0

African
type: Population
allele count: 566
allele frequency: 5.486622721985265e-2
allele num: 10316
num of homozygotes: 15

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.509433962264151e-4
allele num: 66250
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 18
allele frequency: 1.564673157162726e-3
allele num: 11504
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.277904328018223e-3
allele num: 878
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.443e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.00448e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.21e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.69e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.77e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.893e0

GenotypeQuality
all individuals: 961
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3669
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 740
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8398
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GenotypeQuality
all individuals: 18979
bin: 6.25e1
variant carriers: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6260
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511578692786746e-5
allele num: 66156
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.477e-1

QD
type: SiteQuality
SIO_000300: 1.246e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.69e-1

DP
type: SiteQuality
SIO_000300: 1.971513e6

MQ
type: SiteQuality
SIO_000300: 5.801e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

GenotypeQuality
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1638
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 418
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variant carriers: 0

GenotypeQuality
all individuals: 2513
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1885
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17824
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6242
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66116
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 5
allele frequency: 3.032508491023775e-4
allele num: 16488
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.243e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-2

QD
type: SiteQuality
SIO_000300: 1.179e1

MQRankSum
type: SiteQuality
SIO_000300: -5.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.196e0

DP
type: SiteQuality
SIO_000300: 1.953694e6

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 12050
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 1.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10222
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523043650431021e-5
allele num: 65658
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6154
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQ
type: SiteQuality
SIO_000300: 5.808e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.062e0

QD
type: SiteQuality
SIO_000300: 1.179e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-2

DP
type: SiteQuality
SIO_000300: 1.859191e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.113e0

FS
type: SiteQuality
SIO_000300: 3.478e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 276
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GenotypeQuality
all individuals: 4039
bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
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GenotypeQuality
all individuals: 228
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 3.342245989304813e-4
allele num: 2992
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 534
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8306
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.03e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.69e0

FS
type: SiteQuality
SIO_000300: 8.709e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.43e-1

DP
type: SiteQuality
SIO_000300: 9.51524e5

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 5.703e1

VQSLOD
type: SiteQuality
SIO_000300: -8.222e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

QD
type: SiteQuality
SIO_000300: 1.971e1

GenotypeQuality
all individuals: 646
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
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GenotypeQuality
all individuals: 227
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GenotypeQuality
all individuals: 282
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6139
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 270
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.706853038245001e-5
allele num: 10302
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 224
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3006
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8298
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.59024e5

MQRankSum
type: SiteQuality
SIO_000300: 1.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.91e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.49e0

QD
type: SiteQuality
SIO_000300: 1.238e1

FS
type: SiteQuality
SIO_000300: 2.321e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.08e-1

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7348
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 24122
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 709
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 189
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 4.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3020
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 3.615328994938539e-4
allele num: 8298
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.87e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

DP
type: SiteQuality
SIO_000300: 9.6307e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

FS
type: SiteQuality
SIO_000300: 1.327e0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 9.99e0

GenotypeQuality
all individuals: 274
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.204819277108434e-4
allele num: 8300
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3036
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.909e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

VQSLOD
type: SiteQuality
SIO_000300: -1.056e0

QD
type: SiteQuality
SIO_000300: 8.76e0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-2

DP
type: SiteQuality
SIO_000300: 9.76503e5

GenotypeQuality
all individuals: 216
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7348
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 273
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 796
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3042
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10470
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.202790473899447e-4
allele num: 8314
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 2.791e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.58e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.769e0

DP
type: SiteQuality
SIO_000300: 9.79815e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -7.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.33e-1

GenotypeQuality
all individuals: 15010
bin: 2.25e1
variant carriers: 12

GenotypeQuality
all individuals: 59
bin: 4.75e1
variant carriers: 7

GenotypeQuality
all individuals: 807
bin: 2.75e1
variant carriers: 4

GenotypeQuality
all individuals: 358
bin: 6.75e1
variant carriers: 4

GenotypeQuality
all individuals: 62
bin: 4.25e1
variant carriers: 3

GenotypeQuality
all individuals: 288
bin: 7.75e1
variant carriers: 6

GenotypeQuality
all individuals: 239
bin: 9.25e1
variant carriers: 13

European (Non-Finnish)
type: Population
allele count: 110
allele frequency: 1.030155459823937e-2
allele num: 10678
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 2.923976608187134e-3
allele num: 3078
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 232
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.202501202501203e-4
allele num: 8316
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.23e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 6.63e-1

DP
type: SiteQuality
SIO_000300: 9.8739e5

QD
type: SiteQuality
SIO_000300: 1.411e1

VQSLOD
type: SiteQuality
SIO_000300: 3.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

GenotypeQuality
all individuals: 23295
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 808
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
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variant carriers: 0

GenotypeQuality
all individuals: 7344
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.342301943198804e-5
allele num: 10704
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3080
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.31e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.76e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

VQSLOD
type: SiteQuality
SIO_000300: -1.583e0

FS
type: SiteQuality
SIO_000300: 3.104e0

QD
type: SiteQuality
SIO_000300: 1.622e1

DP
type: SiteQuality
SIO_000300: 9.88586e5

ClippingRankSum
type: SiteQuality
SIO_000300: 4.78e-1

GenotypeQuality
all individuals: 18685
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 132
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 348
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 227
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 88
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7361
bin: 9.75e1
variant carriers: 15

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 268
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1080
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8442
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.094059405940594e-4
allele num: 3232
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 7.034822370735139e-4
allele num: 11372
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.76e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.31e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.01975e6

FS
type: SiteQuality
SIO_000300: 5.703e0

QD
type: SiteQuality
SIO_000300: 1.43e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.09e-1

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 934
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3462
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7348
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3282
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 326
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1156
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 254
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 8.503401360544217e-5
allele num: 11760
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.635e0

VQSLOD
type: SiteQuality
SIO_000300: -1.992e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.31e-1

FS
type: SiteQuality
SIO_000300: 6.532e0

QD
type: SiteQuality
SIO_000300: 4.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.57e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.029463e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

GenotypeQuality
all individuals: 947
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3011
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22072
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7347
bin: 9.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 336
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 254
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 3.019323671497584e-4
allele num: 3312
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1184
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 8.433125316242199e-5
allele num: 11858
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-1

QD
type: SiteQuality
SIO_000300: 2.434e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.55e-2

DP
type: SiteQuality
SIO_000300: 1.034025e6

MQRankSum
type: SiteQuality
SIO_000300: -1.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.586e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.26e-1

GenotypeQuality
all individuals: 78
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 158
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 17483
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1181
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 375
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 260
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.583979328165375e-3
allele num: 774
num of homozygotes: 0

African
type: Population
allele count: 23
allele frequency: 6.605399195864446e-3
allele num: 3482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 2.486325211337643e-4
allele num: 12066
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1270
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.462e1

VQSLOD
type: SiteQuality
SIO_000300: 5.83e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

DP
type: SiteQuality
SIO_000300: 1.047044e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.62e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.07e-1

GenotypeQuality
all individuals: 243
bin: 9.25e1
variant carriers: 18

GenotypeQuality
all individuals: 1181
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 158
bin: 8.75e1
variant carriers: 24

GenotypeQuality
all individuals: 78
bin: 4.25e1
variant carriers: 3

GenotypeQuality
all individuals: 77
bin: 4.75e1
variant carriers: 9

GenotypeQuality
all individuals: 7552
bin: 9.75e1
variant carriers: 265

GenotypeQuality
all individuals: 311
bin: 7.75e1
variant carriers: 12

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 346
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1270
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 260
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 8.287750704458811e-5
allele num: 12066
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.17096018735363e-4
allele num: 8540
num of homozygotes: 0

African
type: Population
allele count: 241
allele frequency: 6.921309592188397e-2
allele num: 3482
num of homozygotes: 7

Latino
type: Population
allele count: 11
allele frequency: 1.421188630490956e-2
allele num: 774
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.83e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.62e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

QD
type: SiteQuality
SIO_000300: 1.462e1

DP
type: SiteQuality
SIO_000300: 1.047044e6

GenotypeQuality
all individuals: 193
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variant carriers: 1

GenotypeQuality
all individuals: 82
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variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 6.75e1
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GenotypeQuality
all individuals: 49
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GenotypeQuality
all individuals: 301
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GenotypeQuality
all individuals: 356
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1053
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1304
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3496
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 8.18464560484531e-5
allele num: 12218
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.081e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.34e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e-1

DP
type: SiteQuality
SIO_000300: 1.05421e6

FS
type: SiteQuality
SIO_000300: 2.911e0

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.49e-1

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 235
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 7400
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 88
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2107
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 857
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 8
allele frequency: 8.733624454148472e-4
allele num: 9160
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2144
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4170
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.195600191296031e-4
allele num: 16728
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 6.711409395973154e-4
allele num: 1490
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.59e-1

FS
type: SiteQuality
SIO_000300: 2.763e0

DP
type: SiteQuality
SIO_000300: 1.140067e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.84e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.107e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

GenotypeQuality
all individuals: 2132
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2215
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7399
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 369
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3066
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1018
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1794
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 2.684419628476324e-4
allele num: 18626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4462
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 338
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.33e-2

DP
type: SiteQuality
SIO_000300: 1.168419e6

FS
type: SiteQuality
SIO_000300: 3.419e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.01e-1

QD
type: SiteQuality
SIO_000300: 1.035e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 254
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1003
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7395
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18870
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9436
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.952569169960474e-4
allele num: 2530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1042
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 340
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1832
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.62e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.27e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.858e0

QD
type: SiteQuality
SIO_000300: 5.04e0

DP
type: SiteQuality
SIO_000300: 1.173111e6

GenotypeQuality
all individuals: 4444
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2298
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1151
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1218
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2152
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4764
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 364
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9658
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.446061891448954e-4
allele num: 20746
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.320000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.19949e6

QD
type: SiteQuality
SIO_000300: 1.049e1

FS
type: SiteQuality
SIO_000300: 3.264e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.07e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.369e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

GenotypeQuality
all individuals: 234
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4761
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7395
bin: 9.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1304
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2344
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4852
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21716
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3064
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 378
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

DP
type: SiteQuality
SIO_000300: 1.216184e6

VQSLOD
type: SiteQuality
SIO_000300: -2.248e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.01e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 4.09e0

GenotypeQuality
all individuals: 403
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2290
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2279
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7397
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 412
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1188
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22428
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2490
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9902
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4962
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 6.277463904582549e-4
allele num: 3186
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 382
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.621e0

FS
type: SiteQuality
SIO_000300: 2.234e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.299999999999999e-3

QD
type: SiteQuality
SIO_000300: 1.178e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

DP
type: SiteQuality
SIO_000300: 1.225271e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.3e-1

GenotypeQuality
all individuals: 2692
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2195
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1184
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32616
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7030
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5284
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1606
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2946
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.831257078142696e-4
allele num: 3532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24918
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.39e0

QD
type: SiteQuality
SIO_000300: 1.018e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.59e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-2

DP
type: SiteQuality
SIO_000300: 1.262124e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.900000000000001e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.27e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 173
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10093
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7400
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 254
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1203
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1130
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1942
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3868
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 440
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.254118082546733e-5
allele num: 10806
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5812
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29840
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.67e0

MQRankSum
type: SiteQuality
SIO_000300: -3.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

FS
type: SiteQuality
SIO_000300: 1.043e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

QD
type: SiteQuality
SIO_000300: 9.19e0

DP
type: SiteQuality
SIO_000300: 1.328262e6

VQSLOD
type: SiteQuality
SIO_000300: -8.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.14e0

GenotypeQuality
all individuals: 28987
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 4.25e1
variant carriers: 7

GenotypeQuality
all individuals: 264
bin: 9.25e1
variant carriers: 11

GenotypeQuality
all individuals: 7753
bin: 9.75e1
variant carriers: 583

GenotypeQuality
all individuals: 371
bin: 7.25e1
variant carriers: 6

GenotypeQuality
all individuals: 386
bin: 8.25e1
variant carriers: 12

GenotypeQuality
all individuals: 591
bin: 4.75e1
variant carriers: 6

GenotypeQuality
all individuals: 179
bin: 8.75e1
variant carriers: 6

Latino
type: Population
allele count: 7
allele frequency: 1.742160278745645e-3
allele num: 4018
num of homozygotes: 0

African
type: Population
allele count: 200
allele frequency: 3.321155762205247e-2
allele num: 6022
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.956819516013306e-4
allele num: 30662
num of homozygotes: 0

South Asian
type: Population
allele count: 383
allele frequency: 3.456054863743006e-2
allele num: 11082
num of homozygotes: 8

East Asian
type: Population
allele count: 21
allele frequency: 4.865616311399444e-3
allele num: 4316
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 6.818181818181818e-3
allele num: 440
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2004
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.43e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.85e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.133e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

QD
type: SiteQuality
SIO_000300: 1.196e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.370046e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.63e-1

GenotypeQuality
all individuals: 561
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1935
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1311
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7462
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 265
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11276
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 464
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 6.455777921239509e-4
allele num: 6196
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4326
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2152
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.17017338187203e-5
allele num: 32414
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

VQSLOD
type: SiteQuality
SIO_000300: 5.56e0

DP
type: SiteQuality
SIO_000300: 1.391299e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

QD
type: SiteQuality
SIO_000300: 1.309e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

GenotypeQuality
all individuals: 658
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1046
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1331
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2149
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2406
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.000800320128051e-4
allele num: 4998
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4996
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11644
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35738
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 496
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.288e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.94e-1

DP
type: SiteQuality
SIO_000300: 1.436776e6

MQRankSum
type: SiteQuality
SIO_000300: -4.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.81e0

GenotypeQuality
all individuals: 6121
bin: 4.75e1
variant carriers: 6121

GenotypeQuality
all individuals: 178
bin: 1.25e1
variant carriers: 178

GenotypeQuality
all individuals: 3610
bin: 3.25e1
variant carriers: 3610

GenotypeQuality
all individuals: 4179
bin: 6.75e1
variant carriers: 4179

GenotypeQuality
all individuals: 110
bin: 7.5e0
variant carriers: 110

GenotypeQuality
all individuals: 6075
bin: 5.25e1
variant carriers: 6075

GenotypeQuality
all individuals: 791
bin: 8.75e1
variant carriers: 791

GenotypeQuality
all individuals: 2667
bin: 7.75e1
variant carriers: 2667

European (Non-Finnish)
type: Population
allele count: 62549
allele frequency: 9.999840127897682e-1
allele num: 62550
num of homozygotes: 31274

African
type: Population
allele count: 9620
allele frequency: 9.94007026245092e-1
allele num: 9678
num of homozygotes: 4781

Latino
type: Population
allele count: 10639
allele frequency: 9.99906015037594e-1
allele num: 10640
num of homozygotes: 5319

South Asian
type: Population
allele count: 15436
allele frequency: 1.0e0
allele num: 15436
num of homozygotes: 7718

East Asian
type: Population
allele count: 8124
allele frequency: 1.0e0
allele num: 8124
num of homozygotes: 4062

European (Finnish)
type: Population
allele count: 5562
allele frequency: 1.0e0
allele num: 5562
num of homozygotes: 2781

Other
type: Population
allele count: 818
allele frequency: 9.975609756097561e-1
allele num: 820
num of homozygotes: 408

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.23e-2

DP
type: SiteQuality
SIO_000300: 2.555649e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

MQRankSum
type: SiteQuality
SIO_000300: 4.49e-1

QD
type: SiteQuality
SIO_000300: 3.223e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.68e-1

GenotypeQuality
all individuals: 887
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4082
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3800
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2335
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5861
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1060
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1550
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14420
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 744
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57706
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7542
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4670
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.041883725776203e-4
allele num: 9598
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

DP
type: SiteQuality
SIO_000300: 1.377817e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.588e0

MQRankSum
type: SiteQuality
SIO_000300: -6.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.33e-1

QD
type: SiteQuality
SIO_000300: 1.062e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2271
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12059
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1610
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8828
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.497481813094572e-5
allele num: 57184
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14324
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7496
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4628
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e0

FS
type: SiteQuality
SIO_000300: 4.82e-1

QD
type: SiteQuality
SIO_000300: 1.046e1

DP
type: SiteQuality
SIO_000300: 1.402356e6

VQSLOD
type: SiteQuality
SIO_000300: 3.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-2

MQ
type: SiteQuality
SIO_000300: 5.952e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.261e0

GenotypeQuality
all individuals: 2824
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 523
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1287
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 843
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5851
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 478
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2862
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.75753102042251e-5
allele num: 56898
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8816
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4606
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7486
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14254
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9446
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 6.97e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

DP
type: SiteQuality
SIO_000300: 1.41364e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.38e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.756e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.95e-1

GenotypeQuality
all individuals: 1067
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12813
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24347
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 828
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2628
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2838
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1344
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8782
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.763730643056193e-5
allele num: 56698
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14198
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7470
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4594
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.418434e6

VQSLOD
type: SiteQuality
SIO_000300: 7.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

QD
type: SiteQuality
SIO_000300: 9.640000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.118e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.76e-1

GenotypeQuality
all individuals: 2109
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2467
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5847
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 962
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 4.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4222
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 688
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.882175795219273e-5
allele num: 53130
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8790
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7056
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13796
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -3.351e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.39e-1

FS
type: SiteQuality
SIO_000300: 8.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.452e0

DP
type: SiteQuality
SIO_000300: 1.378979e6

QD
type: SiteQuality
SIO_000300: 7.34e0

GenotypeQuality
all individuals: 535
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 970
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 733
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 690
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13780
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7046
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8756
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.649291955408256e-5
allele num: 53104
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8356
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.01e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.169999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

DP
type: SiteQuality
SIO_000300: 1.379362e6

FS
type: SiteQuality
SIO_000300: 3.784e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.98e-1

QD
type: SiteQuality
SIO_000300: 1.296e1

GenotypeQuality
all individuals: 617
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1580
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2214
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 686
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1507
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8334
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13522
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8136
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4030
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6838
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.955110659263314e-5
allele num: 51148
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 662
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.362e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.67e-1

DP
type: SiteQuality
SIO_000300: 1.340389e6

VQSLOD
type: SiteQuality
SIO_000300: -2.023e0

QD
type: SiteQuality
SIO_000300: 1.187e1

MQ
type: SiteQuality
SIO_000300: 5.753e1

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 470
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 670
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5848
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1128
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2391
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2124
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 995
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.991159252917048e-5
allele num: 50222
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6718
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3928
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8158
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.967709885742673e-4
allele num: 8052
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.461572899567229e-5
allele num: 13402
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 656
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.325253e6

FS
type: SiteQuality
SIO_000300: 3.395e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.29e-1

MQ
type: SiteQuality
SIO_000300: 5.899e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

QD
type: SiteQuality
SIO_000300: 1.227e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.39e-1

GenotypeQuality
all individuals: 1023
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 516
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 970
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18499
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8046
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.006581587607352e-5
allele num: 49836
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7984
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 7.485029940119761e-4
allele num: 6680
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13346
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 654
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

DP
type: SiteQuality
SIO_000300: 1.320712e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.19e-1

FS
type: SiteQuality
SIO_000300: 3.479e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.38e-1

QD
type: SiteQuality
SIO_000300: 9.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e-1

GenotypeQuality
all individuals: 1023
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 970
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1504
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2371
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5847
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13346
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3878
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7984
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49836
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8046
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6680
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e-1

FS
type: SiteQuality
SIO_000300: 3.479e0

QD
type: SiteQuality
SIO_000300: 9.81e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

DP
type: SiteQuality
SIO_000300: 1.320712e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.38e-1

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 554
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variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.575757575757576e-5
allele num: 13200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48432
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7866
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7738
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3720
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.285802e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.251e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.666e0

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 4.24e0

GenotypeQuality
all individuals: 2524
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1625
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1529
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variant carriers: 0

GenotypeQuality
all individuals: 5843
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12880
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.177795200139379e-5
allele num: 45918
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7226
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7566
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 618
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.616553507921112e-4
allele num: 6186
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3484
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.2e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.674e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.39e-1

DP
type: SiteQuality
SIO_000300: 1.243533e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.45e-1

QD
type: SiteQuality
SIO_000300: 6.1e0

GenotypeQuality
all individuals: 2648
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1322
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11900
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5843
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 492
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variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6660
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5808
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7290
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.918910357934748e-5
allele num: 12628
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 588
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 4.966e1

VQSLOD
type: SiteQuality
SIO_000300: -6.431e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.093e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.016e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e0

QD
type: SiteQuality
SIO_000300: 1.78e0

DP
type: SiteQuality
SIO_000300: 1.194545e6

GenotypeQuality
all individuals: 478
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2541
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 906
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5843
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6950
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5470
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.44164469186444e-5
allele num: 40956
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12304
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3046
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.8e-2

MQRankSum
type: SiteQuality
SIO_000300: -9.14e-1

DP
type: SiteQuality
SIO_000300: 1.149825e6

FS
type: SiteQuality
SIO_000300: 2.077e0

QD
type: SiteQuality
SIO_000300: 1.039e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.973e0

VQSLOD
type: SiteQuality
SIO_000300: -3.75e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e0

GenotypeQuality
all individuals: 197
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1490
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1136
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2495
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 8.75e1
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GenotypeQuality
all individuals: 363
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GenotypeQuality
all individuals: 553
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5843
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variant carriers: 1

GenotypeQuality
all individuals: 521
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36916
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5340
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6412
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 502
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11832
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.061005770816158e-4
allele num: 4852
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.085692e6

FS
type: SiteQuality
SIO_000300: 2.431e0

VQSLOD
type: SiteQuality
SIO_000300: 2.02e0

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.0e-2

QD
type: SiteQuality
SIO_000300: 1.226e1

GenotypeQuality
all individuals: 533
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1136
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2495
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
all individuals: 553
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variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2849
bin: 7.5e0
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GenotypeQuality
all individuals: 467
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 270
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variant carriers: 0

GenotypeQuality
all individuals: 5843
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4852
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6412
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5340
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11832
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.708852530068263e-5
allele num: 36916
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.0e-2

FS
type: SiteQuality
SIO_000300: 2.431e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

QD
type: SiteQuality
SIO_000300: 1.226e1

DP
type: SiteQuality
SIO_000300: 1.085692e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.75e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

GenotypeQuality
all individuals: 5113
bin: 6.25e1
variant carriers: 41

GenotypeQuality
all individuals: 31219
bin: 2.25e1
variant carriers: 28

GenotypeQuality
all individuals: 1091
bin: 6.75e1
variant carriers: 33

GenotypeQuality
all individuals: 701
bin: 1.25e1
variant carriers: 11

GenotypeQuality
all individuals: 499
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GenotypeQuality
all individuals: 1967
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variant carriers: 25

GenotypeQuality
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variant carriers: 27

GenotypeQuality
all individuals: 521
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variant carriers: 24

GenotypeQuality
all individuals: 337
bin: 8.75e1
variant carriers: 73

GenotypeQuality
all individuals: 373
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variant carriers: 31

GenotypeQuality
all individuals: 1552
bin: 1.75e1
variant carriers: 20

African
type: Population
allele count: 62
allele frequency: 9.891512444160817e-3
allele num: 6268
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 133
allele frequency: 5.324259407526021e-2
allele num: 2498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2123
allele frequency: 5.915626393223362e-2
allele num: 35888
num of homozygotes: 49

Other
type: Population
allele count: 30
allele frequency: 6.097560975609756e-2
allele num: 492
num of homozygotes: 0

South Asian
type: Population
allele count: 1471
allele frequency: 1.252767841934934e-1
allele num: 11742
num of homozygotes: 89

East Asian
type: Population
allele count: 3
allele frequency: 6.393861892583121e-4
allele num: 4692
num of homozygotes: 0

Latino
type: Population
allele count: 118
allele frequency: 2.29126213592233e-2
allele num: 5150
num of homozygotes: 1

DP
type: SiteQuality
SIO_000300: 1.074992e6

VQSLOD
type: SiteQuality
SIO_000300: 6.18e0

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.45e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.63e-1

QD
type: SiteQuality
SIO_000300: 1.542e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

GenotypeQuality
all individuals: 492
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 546
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 54
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GenotypeQuality
all individuals: 509
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GenotypeQuality
all individuals: 528
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GenotypeQuality
all individuals: 295
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GenotypeQuality
all individuals: 5507
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GenotypeQuality
all individuals: 1610
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3268
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3270
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.984381225595665e-5
allele num: 25098
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 380
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5124
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1480
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.87e-1

QD
type: SiteQuality
SIO_000300: 3.98e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.92e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.449e0

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.9352e5

GenotypeQuality
all individuals: 901
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2567
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2698
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 295
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variant carriers: 0

GenotypeQuality
all individuals: 10179
bin: 7.5e0
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GenotypeQuality
all individuals: 5505
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 92
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1573
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5016
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1390
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3092
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24214
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.02082482645978e-4
allele num: 9796
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3152
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 8.81627e5

FS
type: SiteQuality
SIO_000300: 1.856e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.04e-2

QD
type: SiteQuality
SIO_000300: 1.174e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.91e-1

MQ
type: SiteQuality
SIO_000300: 5.924e1

MQRankSum
type: SiteQuality
SIO_000300: -6.08e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.921e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e0

GenotypeQuality
all individuals: 832
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2529
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1956
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 506
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5503
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1734
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.506265664160401e-4
allele num: 3990
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16806
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8894
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2044
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

DP
type: SiteQuality
SIO_000300: 7.85095e5

VQSLOD
type: SiteQuality
SIO_000300: -1.421e0

FS
type: SiteQuality
SIO_000300: 5.147e0

QD
type: SiteQuality
SIO_000300: 1.449e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e0

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.91e-1

MQ
type: SiteQuality
SIO_000300: 5.833e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.73e-2

GenotypeQuality
all individuals: 497
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 303
bin: 8.75e1
variant carriers: 10

GenotypeQuality
all individuals: 1984
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 21691
bin: 2.25e1
variant carriers: 3

GenotypeQuality
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bin: 7.25e1
variant carriers: 2

GenotypeQuality
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bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 837
bin: 6.75e1
variant carriers: 5

GenotypeQuality
all individuals: 519
bin: 9.25e1
variant carriers: 14

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

GenotypeQuality
all individuals: 486
bin: 8.25e1
variant carriers: 5

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1972
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 7.142857142857143e-3
allele num: 280
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 4.176610978520286e-3
allele num: 1676
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 72
allele frequency: 4.363636363636364e-3
allele num: 16500
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 1.520527116066903e-3
allele num: 3946
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 7.913181098801719e-4
allele num: 8846
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.98e0

DP
type: SiteQuality
SIO_000300: 7.80367e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 1.334e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.76e-2

FS
type: SiteQuality
SIO_000300: 1.469e0

GenotypeQuality
all individuals: 1757
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23935
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2350
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 315
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variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 810
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5486
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1366
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8684
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1676
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3722
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 494
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 262
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.690753378830456e-5
allele num: 14946
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.24e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.122e0

FS
type: SiteQuality
SIO_000300: 3.358e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.55e-1

MQ
type: SiteQuality
SIO_000300: 5.855e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.55e-1

QD
type: SiteQuality
SIO_000300: 1.089e1

DP
type: SiteQuality
SIO_000300: 7.49974e5

GenotypeQuality
all individuals: 290
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

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

GenotypeQuality
all individuals: 5481
bin: 9.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 505
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variant carriers: 0

GenotypeQuality
all individuals: 9434
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3298
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1084
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 278
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8316
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11988
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.36e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.76e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.86863e5

QD
type: SiteQuality
SIO_000300: 1.365e1

GenotypeQuality
all individuals: 240
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 474
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variant carriers: 1

GenotypeQuality
all individuals: 7065
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 701
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variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11282
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.004016064257028e-3
allele num: 996
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 682
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 224
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3188
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8218
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.737e0

MQ
type: SiteQuality
SIO_000300: 5.929e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.59e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.936e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.35e-1

FS
type: SiteQuality
SIO_000300: 8.78e-1

DP
type: SiteQuality
SIO_000300: 6.72098e5

QD
type: SiteQuality
SIO_000300: 8.119999999999999e0

GenotypeQuality
all individuals: 135
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27154
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3377
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5515
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5481
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
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variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10660
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3086
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 592
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8144
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.64e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.61172e5

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.8e-2

QD
type: SiteQuality
SIO_000300: 1.68e1

GenotypeQuality
all individuals: 5480
bin: 9.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 7.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8092
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3038
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.038e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.53914e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

QD
type: SiteQuality
SIO_000300: 5.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.93e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1959
bin: 7.5e0
variant carriers: 7

GenotypeQuality
all individuals: 41
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2

DP
type: SiteQuality
SIO_000300: 5.516e3

FS
type: SiteQuality
SIO_000300: 3.76e0

VQSLOD
type: SiteQuality
SIO_000300: 8.91e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.574e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5428
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2050
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4544
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16940
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 207
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15221
bin: 9.75e1
variant carriers: 33

GenotypeQuality
all individuals: 3161
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 32
allele frequency: 3.081664098613251e-3
allele num: 10384
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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50154659299078e-5
allele num: 66598
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e0

DP
type: SiteQuality
SIO_000300: 2.344971e6

VQSLOD
type: SiteQuality
SIO_000300: 3.39e0

FS
type: SiteQuality
SIO_000300: 6.99e-1

QD
type: SiteQuality
SIO_000300: 1.503e1

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.42e-1

GenotypeQuality
all individuals: 159
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5428
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2050
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3161
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4544
bin: 8.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.504639778972342e-5
allele num: 66598
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.344971e6

FS
type: SiteQuality
SIO_000300: 6.99e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

VQSLOD
type: SiteQuality
SIO_000300: 3.39e0

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e0

QD
type: SiteQuality
SIO_000300: 1.503e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.42e-1

GenotypeQuality
all individuals: 5422
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 141
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3635
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4544
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3158
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8714
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17040
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2047
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.504504504504505e-5
allele num: 66600
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

QD
type: SiteQuality
SIO_000300: 1.41e1

DP
type: SiteQuality
SIO_000300: 2.344539e6

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.41e-1

GenotypeQuality
all individuals: 59
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17447
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3633
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 104
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3148
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501411326647048e-5
allele num: 66604
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 8.43e0

VQSLOD
type: SiteQuality
SIO_000300: -9.82e-1

FS
type: SiteQuality
SIO_000300: 1.082e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.21e0

DP
type: SiteQuality
SIO_000300: 2.346296e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.12e-1

MQ
type: SiteQuality
SIO_000300: 5.684e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-1

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

GenotypeQuality
all individuals: 3145
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17665
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 72
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8716
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2028
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.63020030816641e-5
allele num: 10384
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.539951573849879e-4
allele num: 6608
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.728907330567082e-4
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 39
allele frequency: 5.854273619742412e-4
allele num: 66618
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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: 1.254e0

VQSLOD
type: SiteQuality
SIO_000300: 3.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.231e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

QD
type: SiteQuality
SIO_000300: 1.235e1

DP
type: SiteQuality
SIO_000300: 2.348724e6

GenotypeQuality
all individuals: 63
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4538
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15146
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3146
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2030
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3624
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8723
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500870504892838e-5
allele num: 66628
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
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: 10386
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 2.348049e6

VQSLOD
type: SiteQuality
SIO_000300: -2.421e0

FS
type: SiteQuality
SIO_000300: 3.597e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e0

QD
type: SiteQuality
SIO_000300: 1.296e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.603e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.004e0

MQ
type: SiteQuality
SIO_000300: 5.832e1

GenotypeQuality
all individuals: 2029
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5414
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3623
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8723
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3145
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4536
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.626492106276473e-5
allele num: 10388
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: 11570
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66632
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: 906
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.539e0

MQRankSum
type: SiteQuality
SIO_000300: 3.81e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.673e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.56e-1

MQ
type: SiteQuality
SIO_000300: 5.44e1

DP
type: SiteQuality
SIO_000300: 2.348295e6

FS
type: SiteQuality
SIO_000300: 6.889999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.025e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 5409
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17796
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4536
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500600240096038e-5
allele num: 66640
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
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: 906
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.379999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e0

DP
type: SiteQuality
SIO_000300: 2.348534e6

QD
type: SiteQuality
SIO_000300: 1.306e1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

MQRankSum
type: SiteQuality
SIO_000300: 9.53e-1