1-109366083-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366083
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366083
    reference: chr 1
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1986C>T
  hgvsp: ENST00000369994.1:c.1986C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1197C>T
  hgvsp: ENST00000357393.4:c.1197C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1866C>T
  hgvsp: ENST00000474186.1:c.1866C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*284C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.2076C>T
  hgvsp: ENST00000369995.3:c.2076C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.2076C>T
  hgvsp: ENST00000370001.3:c.2076C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.414C>T
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41123
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1965
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Tyr692Tyr
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ

1-109366084-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366084
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366084
    reference: chr 1
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1985A>C
  hgvsp: ENSP00000359011.1:p.Tyr662Ser
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1196A>C
  hgvsp: ENSP00000349968.4:p.Tyr399Ser
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.2075A>C
  hgvsp: ENSP00000359018.3:p.Tyr692Ser
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*283A>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1865A>C
  hgvsp: ENSP00000436835.1:p.Tyr622Ser
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.2075A>C
  hgvsp: ENSP00000359012.3:p.Tyr692Ser
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.413A>C
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10131
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2879
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr692Ser
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

1-109366089-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366089
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366089
    reference: chr 1
allele count: 86
allele frequency: 7.083786366182333e-4
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*278T>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.2070T>C
  hgvsp: ENST00000369995.3:c.2070T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.2070T>C
  hgvsp: ENST00000370001.3:c.2070T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.408T>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1980T>C
  hgvsp: ENST00000369994.1:c.1980T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1860T>C
  hgvsp: ENST00000474186.1:c.1860T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1191T>C
  hgvsp: ENST00000357393.4:c.1191T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 9.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 40921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2877
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1965
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Tyr690Tyr
num of homozygotes: 1
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

1-109366096-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366096
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366096
    reference: chr 1
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1973T>C
  hgvsp: ENSP00000359011.1:p.Phe658Ser
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*271T>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.2063T>C
  hgvsp: ENSP00000359012.3:p.Phe688Ser
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1184T>C
  hgvsp: ENSP00000349968.4:p.Phe395Ser
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1853T>C
  hgvsp: ENSP00000436835.1:p.Phe618Ser
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.2063T>C
  hgvsp: ENSP00000359018.3:p.Phe688Ser
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.401T>C
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4515
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6445
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2878
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2393
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Phe688Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

1-109366107-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366107
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366107
    reference: chr 1
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1181-8C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.2060-8C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1970-8C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*268-8C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1850-8C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.2060-8C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.398-8C>T
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4519
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1968
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
hgvs: c.2060-8C>T
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

1-109366107-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366107
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366106
    reference: chr 1
allele count: 11
allele frequency: 9.060806247014052e-5
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.398-9delT
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.2060-9delT
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1970-9delT
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1850-9delT
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*268-9delT
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.2060-9delT
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1181-9delT
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4519
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4215
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2878
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41010
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
reference allele: GA
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-109366108-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366108
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366108
    reference: chr 1
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*268-9T>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.2060-9T>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1850-9T>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.398-9T>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.2060-9T>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1181-9T>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1970-9T>C
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40871
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2879
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6441
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD

1-109366110-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366110
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366110
    reference: chr 1
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.2060-11T>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.2060-11T>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1850-11T>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1181-11T>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.398-11T>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*268-11T>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1970-11T>C
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2392
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4214
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6444
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1967
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

1-109366112-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366112
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366112
    reference: chr 1
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1181-13C>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.398-13C>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.2060-13C>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*268-13C>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1970-13C>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1850-13C>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.2060-13C>A
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40861
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6443
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2881
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/1-109366123-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366123
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366123
    reference: chr 1
allele count: 4
allele frequency: 3.294784356363876e-5
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1850-24G>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*268-24G>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.2060-24G>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.2060-24G>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.398-24G>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1970-24G>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1181-24G>T
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40931
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2883
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

1-109366123-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366123
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366123
    reference: chr 1
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1850-24G>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*268-24G>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1970-24G>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.2060-24G>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1181-24G>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.2060-24G>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.398-24G>C
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2394
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4219
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

1-109366126-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366126
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366126
    reference: chr 1
allele count: 123
allele frequency: 1.013162880347935e-3
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.2060-27A>G
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*268-27A>G
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1850-27A>G
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.398-27A>G
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1181-27A>G
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.2060-27A>G
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1970-27A>G
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 40762
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2881
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1966
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

1-109366132-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366132
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366132
    reference: chr 1
allele count: 31
allele frequency: 2.553457876182004e-4
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1181-33C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.2060-33C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1850-33C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.2060-33C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.398-33C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1970-33C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*268-33C>T
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2883
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2394
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4338
  bin: 9.75e1
  variant carriers: 31
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

1-109366146-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366146
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366146
    reference: chr 1
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1180+42T>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.397+42T>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.2059+42T>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*267+42T>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.2059+42T>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1849+42T>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1969+42T>C
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2397
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

1-109366149-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366149
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366149
    reference: chr 1
allele count: 4
allele frequency: 3.29489291598023e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*267+39C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.397+39C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1969+39C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.2059+39C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.2059+39C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1180+39C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1849+39C>T
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10144
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40699
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2881
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2397
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40893
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

1-109366151-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366151
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366151
    reference: chr 1
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1180+37G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1849+37G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1969+37G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*267+37G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.2059+37G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.397+37G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.2059+37G>A
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10144
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2882
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40885
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1977
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

1-109366153-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366153
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366153
    reference: chr 1
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1180+35G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.2059+35G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.2059+35G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*267+35G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.397+35G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1969+35G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1849+35G>A
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40886
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6430
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-109366156-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366156
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366156
    reference: chr 1
allele count: 2
allele frequency: 1.647500741375333e-5
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.2059+32G>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*267+32G>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.2059+32G>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.397+32G>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1969+32G>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1849+32G>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1180+32G>T
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40876
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2889
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

1-109366158-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366158
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366158
    reference: chr 1
allele count: 7
allele frequency: 5.766062602965403e-5
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.397+30G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1969+30G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.2059+30G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*267+30G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.2059+30G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1180+30G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1849+30G>A
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4537
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6426
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1981
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40870
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

1-109366159-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366159
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366159
    reference: chr 1
allele count: 7
allele frequency: 5.765872623636783e-5
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*267+29C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.397+29C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.2059+29C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1849+29C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.2059+29C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1180+29C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1969+29C>T
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40657
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6426
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2884
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

1-109366162-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366162
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366162
    reference: chr 1
allele count: 3
allele frequency: 2.471006852925672e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.2059+26A>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1849+26A>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.397+26A>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1180+26A>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.2059+26A>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*267+26A>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1969+26A>T
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10155
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4539
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40883
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6431
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4364
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2399
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/1-109366171-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366171
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366171
    reference: chr 1
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*267+17G>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1849+17G>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.397+17G>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.2059+17G>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.2059+17G>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1180+17G>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1969+17G>T
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4544
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4368
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40872
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

1-109366171-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366171
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366171
    reference: chr 1
allele count: 2
allele frequency: 1.647419317638919e-5
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.2059+17G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1969+17G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1849+17G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.2059+17G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*267+17G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1180+17G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.397+17G>A
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4544
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2888
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2398
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40872
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

1-109366173-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366173
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366173
    reference: chr 1
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1849+15G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1969+15G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*267+15G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.2059+15G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.2059+15G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.397+15G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1180+15G>A
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10160
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40651
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2400
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

1-109366177-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366177
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366177
    reference: chr 1
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1969+11C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.2059+11C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*267+11C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.2059+11C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1849+11C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.397+11C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1180+11C>T
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2400
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2884
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1984
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40875
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

1-109366181-G-GTGTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366181
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366185
    reference: chr 1
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: GTGTT
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1180+3_1180+6dupAACA
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1849+3_1849+6dupAACA
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*267+3_*267+6dupAACA
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.2059+3_2059+6dupAACA
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.397+3_397+6dupAACA
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1969+3_1969+6dupAACA
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.2059+3_2059+6dupAACA
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2401
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 8.25e1
  variant carriers: 0
hgvs: c.2059+3_2059+6dupAACA
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

1-109366189-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366189
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366189
    reference: chr 1
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1179A>G
  hgvsp: ENST00000357393.4:c.1179A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*266A>G
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.2058A>G
  hgvsp: ENST00000369995.3:c.2058A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1968A>G
  hgvsp: ENST00000369994.1:c.1968A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.396A>G
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1848A>G
  hgvsp: ENST00000474186.1:c.1848A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.2058A>G
  hgvsp: ENST00000370001.3:c.2058A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40873
  bin: 6.25e1
  variant carriers: 0
hgvs: c.2058A>G
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

1-109366193-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366193
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366194
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: GT
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.2053dupA
  hgvsp: ENSP00000359018.3:p.Thr685AsnfsTer2
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1843dupA
  hgvsp: ENSP00000436835.1:p.Thr615AsnfsTer2
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.2053dupA
  hgvsp: ENSP00000359012.3:p.Thr685AsnfsTer2
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1963dupA
  hgvsp: ENSP00000359011.1:p.Thr655AsnfsTer2
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.391dupA
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*261dupA
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1174dupA
  hgvsp: ENSP00000349968.4:p.Thr392AsnfsTer2
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40631
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4540
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2401
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr685AsnfsTer2
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

1-109366207-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366207
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366207
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.2040C>T
  hgvsp: ENST00000370001.3:c.2040C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1161C>T
  hgvsp: ENST00000357393.4:c.1161C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*248C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.2040C>T
  hgvsp: ENST00000369995.3:c.2040C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1950C>T
  hgvsp: ENST00000369994.1:c.1950C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1830C>T
  hgvsp: ENST00000474186.1:c.1830C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.378C>T
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10160
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4378
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40865
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6429
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Cys680Cys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ

1-109366214-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366214
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366214
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.2033G>A
  hgvsp: ENSP00000359018.3:p.Arg678Lys
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*241G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1943G>A
  hgvsp: ENSP00000359011.1:p.Arg648Lys
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1823G>A
  hgvsp: ENSP00000436835.1:p.Arg608Lys
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.2033G>A
  hgvsp: ENSP00000359012.3:p.Arg678Lys
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1154G>A
  hgvsp: ENSP00000349968.4:p.Arg385Lys
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.371G>A
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4546
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10160
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2400
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2892
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6431
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg678Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

1-109366217-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366217
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366217
    reference: chr 1
allele count: 9
allele frequency: 7.413142678286081e-5
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.2030G>A
  hgvsp: ENSP00000359012.3:p.Arg677Gln
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.2030G>A
  hgvsp: ENSP00000359018.3:p.Arg677Gln
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*238G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1151G>A
  hgvsp: ENSP00000349968.4:p.Arg384Gln
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.368G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1940G>A
  hgvsp: ENSP00000359011.1:p.Arg647Gln
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1820G>A
  hgvsp: ENSP00000436835.1:p.Arg607Gln
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4546
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40850
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg677Gln
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/1-109366217-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366217
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366217
    reference: chr 1
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.2030G>T
  hgvsp: ENSP00000359012.3:p.Arg677Leu
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1940G>T
  hgvsp: ENSP00000359011.1:p.Arg647Leu
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*238G>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.2030G>T
  hgvsp: ENSP00000359018.3:p.Arg677Leu
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1820G>T
  hgvsp: ENSP00000436835.1:p.Arg607Leu
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1151G>T
  hgvsp: ENSP00000349968.4:p.Arg384Leu
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.368G>T
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4546
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4390
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6432
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40850
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg677Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP

1-109366218-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366218
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366218
    reference: chr 1
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1819C>T
  hgvsp: ENSP00000436835.1:p.Arg607Ter
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1150C>T
  hgvsp: ENSP00000349968.4:p.Arg384Ter
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.2029C>T
  hgvsp: ENSP00000359018.3:p.Arg677Ter
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.367C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*237C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1939C>T
  hgvsp: ENSP00000359011.1:p.Arg647Ter
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.2029C>T
  hgvsp: ENSP00000359012.3:p.Arg677Ter
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40593
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2400
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6424
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg677Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/1-109366228-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366228
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366228
    reference: chr 1
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.357T>G
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1929T>G
  hgvsp: ENSP00000359011.1:p.Ile643Met
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*227T>G
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.2019T>G
  hgvsp: ENSP00000359018.3:p.Ile673Met
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.2019T>G
  hgvsp: ENSP00000359012.3:p.Ile673Met
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1140T>G
  hgvsp: ENSP00000349968.4:p.Ile380Met
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1809T>G
  hgvsp: ENSP00000436835.1:p.Ile603Met
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4544
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6428
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1985
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile673Met
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

1-109366231-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366231
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366232
    reference: chr 1
allele count: 3
allele frequency: 2.471006852925672e-5
allele num: 121408
alternate allele: CT
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.2015dupA
  hgvsp: ENSP00000359018.3:p.Ile673AspfsTer14
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1136dupA
  hgvsp: ENSP00000349968.4:p.Ile380AspfsTer14
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1805dupA
  hgvsp: ENSP00000436835.1:p.Ile603AspfsTer14
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.353dupA
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.2015dupA
  hgvsp: ENSP00000359012.3:p.Ile673AspfsTer14
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1925dupA
  hgvsp: ENSP00000359011.1:p.Ile643AspfsTer14
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*223dupA
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40587
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2402
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40830
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile673AspfsTer14
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

1-109366236-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366236
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366235
    reference: chr 1
allele count: 3
allele frequency: 2.470966147763776e-5
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1131delC
  hgvsp: ENSP00000349968.4:p.Thr378LeufsTer44
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.2010delC
  hgvsp: ENSP00000359012.3:p.Thr671LeufsTer44
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.2010delC
  hgvsp: ENSP00000359018.3:p.Thr671LeufsTer44
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*218delC
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1920delC
  hgvsp: ENSP00000359011.1:p.Thr641LeufsTer44
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1800delC
  hgvsp: ENSP00000436835.1:p.Thr601LeufsTer44
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.348delC
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4539
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1988
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4418
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2883
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr671LeufsTer44
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: TG
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

1-109366262-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366262
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366262
    reference: chr 1
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*193A>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1106A>C
  hgvsp: ENSP00000349968.4:p.Gln369Pro
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1895A>C
  hgvsp: ENSP00000359011.1:p.Gln632Pro
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1775A>C
  hgvsp: ENSP00000436835.1:p.Gln592Pro
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.1985A>C
  hgvsp: ENSP00000359018.3:p.Gln662Pro
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.1985A>C
  hgvsp: ENSP00000359012.3:p.Gln662Pro
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.323A>C
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4534
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40586
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6421
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2402
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2886
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln662Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-109366268-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366268
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366268
    reference: chr 1
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1100A>C
  hgvsp: ENSP00000349968.4:p.Glu367Ala
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.1979A>C
  hgvsp: ENSP00000359012.3:p.Glu660Ala
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.317A>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.1979A>C
  hgvsp: ENSP00000359018.3:p.Glu660Ala
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1889A>C
  hgvsp: ENSP00000359011.1:p.Glu630Ala
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1769A>C
  hgvsp: ENSP00000436835.1:p.Glu590Ala
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*187A>C
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4534
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40586
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4424
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2402
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2887
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1988
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu660Ala
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-109366276-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366276
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366276
    reference: chr 1
allele count: 14
allele frequency: 1.153174524727357e-4
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.1971T>C
  hgvsp: ENST00000370001.3:c.1971T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1761T>C
  hgvsp: ENST00000474186.1:c.1761T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1881T>C
  hgvsp: ENST00000369994.1:c.1881T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1092T>C
  hgvsp: ENST00000357393.4:c.1092T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.1971T>C
  hgvsp: ENST00000369995.3:c.1971T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*179T>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.309T>C
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 10130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40827
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6413
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser657Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-109366281-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366281
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366281
    reference: chr 1
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1876G>T
  hgvsp: ENSP00000359011.1:p.Asp626Tyr
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1756G>T
  hgvsp: ENSP00000436835.1:p.Asp586Tyr
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1087G>T
  hgvsp: ENSP00000349968.4:p.Asp363Tyr
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.304G>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*174G>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.1966G>T
  hgvsp: ENSP00000359018.3:p.Asp656Tyr
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.1966G>T
  hgvsp: ENSP00000359012.3:p.Asp656Tyr
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6414
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4435
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp656Tyr
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

1-109366286-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366286
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366286
    reference: chr 1
allele count: 30995
allele frequency: 2.553466684241745e-1
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.1961G>A
  hgvsp: ENSP00000359012.3:p.Cys654Tyr
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.1961G>A
  hgvsp: ENSP00000359018.3:p.Cys654Tyr
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1082G>A
  hgvsp: ENSP00000349968.4:p.Cys361Tyr
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*169G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1751G>A
  hgvsp: ENSP00000436835.1:p.Cys584Tyr
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.299G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1871G>A
  hgvsp: ENSP00000359011.1:p.Cys624Tyr
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5886
  bin: 2.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.25e1
  variant carriers: 114
genotype depth: GenotypeDepth
  all individuals: 2529
  bin: 3.25e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 8.25e1
  variant carriers: 1167
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 8.75e1
  variant carriers: 1226
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 7.75e1
  variant carriers: 1051
genotype depth: GenotypeDepth
  all individuals: 22650
  bin: 2.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 18629
  bin: 9.75e1
  variant carriers: 18439
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 3.75e1
  variant carriers: 108
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 6.25e1
  variant carriers: 557
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 7.25e1
  variant carriers: 847
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.25e1
  variant carriers: 274
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 6.75e1
  variant carriers: 784
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 5.75e1
  variant carriers: 377
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.75e1
  variant carriers: 166
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 9.25e1
  variant carriers: 1298
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 9.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 2
hgvs: p.Cys654Tyr
num of homozygotes: 4418
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

1-109366286-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366286
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366286
    reference: chr 1
allele count: 10
allele frequency: 8.238318064983853e-5
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.1961G>C
  hgvsp: ENSP00000359012.3:p.Cys654Ser
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1082G>C
  hgvsp: ENSP00000349968.4:p.Cys361Ser
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1751G>C
  hgvsp: ENSP00000436835.1:p.Cys584Ser
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*169G>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.1961G>C
  hgvsp: ENSP00000359018.3:p.Cys654Ser
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1871G>C
  hgvsp: ENSP00000359011.1:p.Cys624Ser
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.299G>C
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18629
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23104
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Cys654Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS

1-109366297-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366297
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366297
    reference: chr 1
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.1950A>G
  hgvsp: ENST00000369995.3:c.1950A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1740A>G
  hgvsp: ENST00000474186.1:c.1740A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.288A>G
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1071A>G
  hgvsp: ENST00000357393.4:c.1071A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*158A>G
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1860A>G
  hgvsp: ENST00000369994.1:c.1860A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.1950A>G
  hgvsp: ENST00000370001.3:c.1950A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23035
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7516
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23825
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly650Gly
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

1-109366303-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366303
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366303
    reference: chr 1
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1734T>C
  hgvsp: ENST00000474186.1:c.1734T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.1944T>C
  hgvsp: ENST00000370001.3:c.1944T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1854T>C
  hgvsp: ENST00000369994.1:c.1854T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1065T>C
  hgvsp: ENST00000357393.4:c.1065T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.282T>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.1944T>C
  hgvsp: ENST00000369995.3:c.1944T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*152T>C
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25276
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1640
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp648Asp
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

1-109366309-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366309
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366309
    reference: chr 1
allele count: 2
allele frequency: 1.648967746190884e-5
allele num: 121288
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.1938T>C
  hgvsp: ENST00000370001.3:c.1938T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1059T>C
  hgvsp: ENST00000357393.4:c.1059T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1728T>C
  hgvsp: ENST00000474186.1:c.1728T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.1938T>C
  hgvsp: ENST00000369995.3:c.1938T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.276T>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1848T>C
  hgvsp: ENST00000369994.1:c.1848T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*146T>C
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3853
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
hgvs: c.1938T>C
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

1-109366311-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366311
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366311
    reference: chr 1
allele count: 1
allele frequency: 8.245654540057389e-6
allele num: 121276
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*145-1G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.1937-1G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1727-1G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1847-1G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.1937-1G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.275-1G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1058-1G>A
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3854
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7452
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4160
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: c.1937-1G>A
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

1-109366313-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366313
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366313
    reference: chr 1
allele count: 1
allele frequency: 8.246470510621453e-6
allele num: 121264
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*145-3C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1727-3C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.275-3C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.1937-3C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1058-3C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.1937-3C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1847-3C>T
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2934
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7443
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23817
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
hgvs: c.1937-3C>T
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum

1-109366341-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366341
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366341
    reference: chr 1
allele count: 4
allele frequency: 3.304146704113662e-5
allele num: 121060
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.1937-31C>G
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.1937-31C>G
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.275-31C>G
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1847-31C>G
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*145-31C>G
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1058-31C>G
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1727-31C>G
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4054
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23807
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

1-109366344-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366344
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366344
    reference: chr 1
allele count: 2
allele frequency: 1.652619401751776e-5
allele num: 121020
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1847-34T>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*145-34T>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1727-34T>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.1937-34T>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.1937-34T>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1058-34T>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.275-34T>C
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2933
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23873
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4021
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

1-109366349-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109366349
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109366348
    reference: chr 1
allele count: 131
allele frequency: 1.082948927797894e-3
allele num: 120966
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.1937-40delA
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1058-40delA
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*145-40delA
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.275-40delA
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1847-40delA
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1727-40delA
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.1937-40delA
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6490
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22223
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 8.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 9.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 7.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3576
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 8.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 6.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3956
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23195
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: CT
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP

1-109369785-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109369785
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109369785
    reference: chr 1
allele count: 4
allele frequency: 3.314001657000828e-5
allele num: 120700
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1846+42C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1057+42C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*144+42C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.1936+42C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1726+42C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.274+42C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.1936+42C>T
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39863
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2949
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

1-109369791-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109369791
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109369791
    reference: chr 1
allele count: 28411
allele frequency: 2.353189656600461e-1
allele num: 120734
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.1936+36C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.1936+36C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1057+36C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1726+36C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.274+36C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1846+36C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*144+36C>T
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 5.25e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 8.75e1
  variant carriers: 148
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.75e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 2.75e1
  variant carriers: 590
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 4.75e1
  variant carriers: 109
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.25e1
  variant carriers: 153
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 2.25e1
  variant carriers: 495
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 3.75e1
  variant carriers: 284
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 1.75e1
  variant carriers: 304
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 3.25e1
  variant carriers: 493
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 4.25e1
  variant carriers: 155
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 6.25e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 7.25e1
  variant carriers: 104
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.5e0
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 6.75e1
  variant carriers: 104
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 8.25e1
  variant carriers: 122
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 9.25e1
  variant carriers: 176
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 5.75e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 40855
  bin: 9.75e1
  variant carriers: 20744
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 6.75e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 7.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 4.75e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 3.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 9.25e1
  variant carriers: 41
num of homozygotes: 4070
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

1-109369797-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109369797
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109369797
    reference: chr 1
allele count: 1
allele frequency: 8.278831029058698e-6
allele num: 120790
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1726+30A>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*144+30A>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.1936+30A>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.274+30A>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1057+30A>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1846+30A>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.1936+30A>T
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42026
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54514
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

1-109369797-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109369797
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109369797
    reference: chr 1
allele count: 67862
allele frequency: 5.618180312939813e-1
allele num: 120790
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1846+30A>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.1936+30A>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.1936+30A>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.274+30A>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1726+30A>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*144+30A>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1057+30A>C
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 91
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 3.75e1
  variant carriers: 701
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 7.75e1
  variant carriers: 202
genotype depth: GenotypeDepth
  all individuals: 42026
  bin: 9.75e1
  variant carriers: 41138
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.75e1
  variant carriers: 205
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 8.25e1
  variant carriers: 223
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 1.75e1
  variant carriers: 503
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 2.25e1
  variant carriers: 769
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 4.75e1
  variant carriers: 236
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 9.25e1
  variant carriers: 243
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 1.25e1
  variant carriers: 237
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 3.25e1
  variant carriers: 995
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 2.75e1
  variant carriers: 943
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 5.75e1
  variant carriers: 171
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 6.75e1
  variant carriers: 161
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 5.25e1
  variant carriers: 173
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 6.25e1
  variant carriers: 154
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 147
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 4.25e1
  variant carriers: 401
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 8.75e1
  variant carriers: 88
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 73
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 68
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 6.75e1
  variant carriers: 129
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.75e1
  variant carriers: 100
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.25e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 1927
  bin: 6.25e1
  variant carriers: 118
num of homozygotes: 20290
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP

1-109369799-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109369799
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109369799
    reference: chr 1
allele count: 1
allele frequency: 8.271024945411235e-6
allele num: 120904
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1057+28T>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.1936+28T>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.1936+28T>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*144+28T>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.274+28T>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1846+28T>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1726+28T>C
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40681
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-109369800-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109369800
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109369800
    reference: chr 1
allele count: 2
allele frequency: 1.654369189028224e-5
allele num: 120892
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*144+27C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.1936+27C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.274+27C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1846+27C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1726+27C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.1936+27C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1057+27C>T
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40681
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51970
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-109369803-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109369803
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109369803
    reference: chr 1
allele count: 2
allele frequency: 1.654369189028224e-5
allele num: 120892
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.1936+24G>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.1936+24G>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1057+24G>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1846+24G>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*144+24G>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.274+24G>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1726+24G>T
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40681
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51967
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

1-109369813-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109369813
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109369813
    reference: chr 1
allele count: 1
allele frequency: 8.268426187759421e-6
allele num: 120942
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.1936+14C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*144+14C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.1936+14C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.274+14C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1057+14C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1846+14C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1726+14C>T
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40682
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2256
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2858
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP

1-109369814-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109369814
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109369814
    reference: chr 1
allele count: 1
allele frequency: 8.268152729317216e-6
allele num: 120946
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*144+13G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1846+13G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.1936+13G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1726+13G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.274+13G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1057+13G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.1936+13G>A
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40681
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2862
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51994
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-109369823-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109369823
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109369823
    reference: chr 1
allele count: 1
allele frequency: 8.262687356435807e-6
allele num: 121026
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1726+4A>G
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.1936+4A>G
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*144+4A>G
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1057+4A>G
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1846+4A>G
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.1936+4A>G
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.274+4A>G
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40681
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52011
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: c.1936+4A>G
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

1-109369825-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109369825
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109369825
    reference: chr 1
allele count: 2
allele frequency: 1.652537471287161e-5
allele num: 121026
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*144+2T>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1726+2T>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.1936+2T>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1846+2T>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1057+2T>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.1936+2T>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.274+2T>C
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40681
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 7.75e1
  variant carriers: 0
hgvs: c.1936+2T>C
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

1-109369825-ACTGGGAGTTGAAT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109369825
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109369812
    reference: chr 1
allele count: 1
allele frequency: 8.262687356435807e-6
allele num: 121026
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40681
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3016
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 8.25e1
  variant carriers: 0
hgvs: c.1925_1936+1delATTCAACTCCCAG
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: ACTGGGAGTTGAAT
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

1-109369830-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109369830
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109369830
    reference: chr 1
allele count: 5
allele frequency: 4.131207138725936e-5
allele num: 121030
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.1933C>T
  hgvsp: ENSP00000359012.3:p.Pro645Ser
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1054C>T
  hgvsp: ENSP00000349968.4:p.Pro352Ser
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1723C>T
  hgvsp: ENSP00000436835.1:p.Pro575Ser
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*141C>T
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1843C>T
  hgvsp: ENSP00000359011.1:p.Pro615Ser
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.1933C>T
  hgvsp: ENSP00000359018.3:p.Pro645Ser
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.271C>T
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40681
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52014
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro645Ser
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-109369839-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109369839
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109369840
    reference: chr 1
allele count: 1
allele frequency: 8.258729477057249e-6
allele num: 121084
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1833dupA
  hgvsp: ENSP00000359011.1:p.Asp612ArgfsTer7
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1044dupA
  hgvsp: ENSP00000349968.4:p.Asp349ArgfsTer7
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1713dupA
  hgvsp: ENSP00000436835.1:p.Asp572ArgfsTer7
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.1923dupA
  hgvsp: ENSP00000359012.3:p.Asp642ArgfsTer7
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.261dupA
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.1923dupA
  hgvsp: ENSP00000359018.3:p.Asp642ArgfsTer7
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*131dupA
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40681
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3113
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp642ArgfsTer7
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

1-109369841-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109369841
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109369841
    reference: chr 1
allele count: 1
allele frequency: 8.257911078813503e-6
allele num: 121096
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.1922C>A
  hgvsp: ENSP00000359018.3:p.Ser641Ter
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1832C>A
  hgvsp: ENSP00000359011.1:p.Ser611Ter
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*130C>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.1922C>A
  hgvsp: ENSP00000359012.3:p.Ser641Ter
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.260C>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1043C>A
  hgvsp: ENSP00000349968.4:p.Ser348Ter
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1712C>A
  hgvsp: ENSP00000436835.1:p.Ser571Ter
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40681
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser641Ter
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-109369849-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109369849
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109369849
    reference: chr 1
allele count: 1
allele frequency: 8.256002113536541e-6
allele num: 121124
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*122A>G
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1035A>G
  hgvsp: ENST00000357393.4:c.1035A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1824A>G
  hgvsp: ENST00000369994.1:c.1824A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.252A>G
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.1914A>G
  hgvsp: ENST00000370001.3:c.1914A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.1914A>G
  hgvsp: ENST00000369995.3:c.1914A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1704A>G
  hgvsp: ENST00000474186.1:c.1704A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40680
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52017
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala638Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD

1-109369851-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109369851
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109369851
    reference: chr 1
allele count: 1
allele frequency: 8.255456856982466e-6
allele num: 121132
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*120G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.250G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1702G>A
  hgvsp: ENSP00000436835.1:p.Ala568Thr
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1822G>A
  hgvsp: ENSP00000359011.1:p.Ala608Thr
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.1912G>A
  hgvsp: ENSP00000359012.3:p.Ala638Thr
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1033G>A
  hgvsp: ENSP00000349968.4:p.Ala345Thr
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.1912G>A
  hgvsp: ENSP00000359018.3:p.Ala638Thr
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40680
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52017
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala638Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum

1-109369859-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109369859
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109369859
    reference: chr 1
allele count: 1
allele frequency: 8.254094030639197e-6
allele num: 121152
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*112A>G
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.1904A>G
  hgvsp: ENSP00000359012.3:p.His635Arg
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1694A>G
  hgvsp: ENSP00000436835.1:p.His565Arg
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.1904A>G
  hgvsp: ENSP00000359018.3:p.His635Arg
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1025A>G
  hgvsp: ENSP00000349968.4:p.His342Arg
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1814A>G
  hgvsp: ENSP00000359011.1:p.His605Arg
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.242A>G
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40680
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 7.25e1
  variant carriers: 0
hgvs: p.His635Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum

1-109369877-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109369877
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109369877
    reference: chr 1
allele count: 1
allele frequency: 8.252867871585376e-6
allele num: 121170
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1007G>A
  hgvsp: ENSP00000349968.4:p.Arg336Lys
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*94G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.224G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.1886G>A
  hgvsp: ENSP00000359012.3:p.Arg629Lys
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1796G>A
  hgvsp: ENSP00000359011.1:p.Arg599Lys
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.1886G>A
  hgvsp: ENSP00000359018.3:p.Arg629Lys
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1676G>A
  hgvsp: ENSP00000436835.1:p.Arg559Lys
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40680
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg629Lys
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

1-109369883-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109369883
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109369883
    reference: chr 1
allele count: 1
allele frequency: 8.252459232851389e-6
allele num: 121176
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.218G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.1880G>A
  hgvsp: ENSP00000359018.3:p.Cys627Tyr
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1670G>A
  hgvsp: ENSP00000436835.1:p.Cys557Tyr
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.1880G>A
  hgvsp: ENSP00000359012.3:p.Cys627Tyr
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*88G>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1790G>A
  hgvsp: ENSP00000359011.1:p.Cys597Tyr
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.1001G>A
  hgvsp: ENSP00000349968.4:p.Cys334Tyr
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40679
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52018
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3216
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Cys627Tyr
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

1-109369889-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109369889
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109369889
    reference: chr 1
allele count: 3
allele frequency: 2.475696908679793e-5
allele num: 121178
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.212T>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1664T>A
  hgvsp: ENSP00000436835.1:p.Ile555Asn
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1784T>A
  hgvsp: ENSP00000359011.1:p.Ile595Asn
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.1874T>A
  hgvsp: ENSP00000359012.3:p.Ile625Asn
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.995T>A
  hgvsp: ENSP00000349968.4:p.Ile332Asn
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*82T>A
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.1874T>A
  hgvsp: ENSP00000359018.3:p.Ile625Asn
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40679
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52018
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile625Asn
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

1-109369894-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109369894
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 109369894
    reference: chr 1
allele count: 1
allele frequency: 8.252459232851389e-6
allele num: 121176
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359011
  ensembl transcript: ENST00000369994
  gene symbol: AKNAD1
  hgvsc: ENST00000369994.1:c.1779A>C
  hgvsp: ENST00000369994.1:c.1779A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000349968
  ensembl transcript: ENST00000357393
  gene symbol: AKNAD1
  hgvsc: ENST00000357393.4:c.990A>C
  hgvsp: ENST00000357393.4:c.990A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000436835
  ensembl transcript: ENST00000474186
  gene symbol: AKNAD1
  hgvsc: ENST00000474186.1:c.1659A>C
  hgvsp: ENST00000474186.1:c.1659A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359012
  ensembl transcript: ENST00000369995
  gene symbol: AKNAD1
  hgvsc: ENST00000369995.3:c.1869A>C
  hgvsp: ENST00000369995.3:c.1869A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000433889
  ensembl transcript: ENST00000461774
  gene symbol: AKNAD1
  hgvsc: ENST00000461774.1:c.*77A>C
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162641
  ensembl protein: ENSP00000359018
  ensembl transcript: ENST00000370001
  gene symbol: AKNAD1
  hgvsc: ENST00000370001.3:c.1869A>C
  hgvsp: ENST00000370001.3:c.1869A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28398
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162641
  ensembl transcript: ENST00000603450
  gene symbol: AKNAD1
  hgvsc: ENST00000603450.1:n.207A>C
  variant of: http://identifiers.org/hgnc/28398
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly623Gly
num of homozygotes: 0
reference allele: T

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

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

GenotypeQuality
all individuals: 2879
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 841
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6461
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4140
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2398
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
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: 908
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.117e0

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.951e0

MQRankSum
type: SiteQuality
SIO_000300: -4.53e-1

QD
type: SiteQuality
SIO_000300: 1.019e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

FS
type: SiteQuality
SIO_000300: 2.842e0

DP
type: SiteQuality
SIO_000300: 1.58616e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 841
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41122
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 864
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1965
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2398
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6461
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4141
bin: 9.75e1
variant carriers: 1

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.656e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 6.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-2

QD
type: SiteQuality
SIO_000300: 1.217e1

VQSLOD
type: SiteQuality
SIO_000300: 2.47e-1

DP
type: SiteQuality
SIO_000300: 1.586198e6

GenotypeQuality
all individuals: 4220
bin: 9.75e1
variant carriers: 85

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

GenotypeQuality
all individuals: 41059
bin: 6.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 6448
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 861
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2393
bin: 7.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 82
allele frequency: 7.881584006151481e-3
allele num: 10404
num of homozygotes: 1

Other
type: Population
allele count: 2
allele frequency: 2.202643171806168e-3
allele num: 908
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.78e0

DP
type: SiteQuality
SIO_000300: 1.593055e6

MQRankSum
type: SiteQuality
SIO_000300: 1.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.37e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.88e-2

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 1.639e1

GenotypeQuality
all individuals: 4204
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 863
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1967
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41043
bin: 6.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.589349e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.96e-1

MQ
type: SiteQuality
SIO_000300: 5.82e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.92e-1

FS
type: SiteQuality
SIO_000300: 1.431e0

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.24e0

VQSLOD
type: SiteQuality
SIO_000300: -2.455e0

QD
type: SiteQuality
SIO_000300: 1.325e1

GenotypeQuality
all individuals: 41010
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 845
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2390
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6442
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2878
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4215
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 864
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.98e-1

FS
type: SiteQuality
SIO_000300: 3.299e0

VQSLOD
type: SiteQuality
SIO_000300: 2.53e0

MQRankSum
type: SiteQuality
SIO_000300: 5.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 1.590037e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-2

MQ
type: SiteQuality
SIO_000300: 6.031e1

QD
type: SiteQuality
SIO_000300: 1.357e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e-1

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

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

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 864
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6442
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2390
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1968
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 845
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 10
allele frequency: 6.056201550387597e-4
allele num: 16512
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.357e1

DP
type: SiteQuality
SIO_000300: 1.590037e6

FS
type: SiteQuality
SIO_000300: 3.299e0

VQSLOD
type: SiteQuality
SIO_000300: 2.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.031e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.98e-1

GenotypeQuality
all individuals: 0
bin: 1.75e1
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: 1968
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40987
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 863
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2391
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4203
bin: 9.75e1
variant carriers: 1

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.85e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.076e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.36e0

VQSLOD
type: SiteQuality
SIO_000300: 1.05e-1

DP
type: SiteQuality
SIO_000300: 1.58919e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.447e1

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41004
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2879
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.589888e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e0

QD
type: SiteQuality
SIO_000300: 1.612e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.96e0

GenotypeQuality
all individuals: 40988
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4215
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1968
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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: 908
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.34e-1

DP
type: SiteQuality
SIO_000300: 1.589977e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.408e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.275e0

MQRankSum
type: SiteQuality
SIO_000300: 1.34e0

QD
type: SiteQuality
SIO_000300: 1.357e1

MQ
type: SiteQuality
SIO_000300: 5.71e1

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4219
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2394
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1969
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
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allele frequency: 4.622140050843541e-4
allele num: 8654
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

VQSLOD
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InbreedingCoeff
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MQRankSum
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QD
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FS
type: SiteQuality
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ClippingRankSum
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MQ
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BaseQRankSum
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ReadPosRankSum
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DP
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SIO_000300: 1.590472e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 4.319281271596407e-4
allele num: 11576
num of homozygotes: 0

African
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allele frequency: 1.124351335767826e-2
allele num: 10406
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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allele num: 16510
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Other
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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DP
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BaseQRankSum
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VQSLOD
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SIO_000300: 6.02e0

FS
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QD
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

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

European (Non-Finnish)
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allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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African
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allele count: 29
allele frequency: 2.786853738227946e-3
allele num: 10406
num of homozygotes: 0

Latino
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allele count: 1
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allele num: 11576
num of homozygotes: 0

Other
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allele num: 908
num of homozygotes: 0

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

DP
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FS
type: SiteQuality
SIO_000300: 5.22e-1

MQRankSum
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SIO_000300: 3.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.448e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.273e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.51e-1

GenotypeQuality
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variant carriers: 0

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

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

African
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allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

East Asian
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num of homozygotes: 0

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

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

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

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.23e-1

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 8.64e-1

MQ
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VQSLOD
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SIO_000300: 1.99e-1

BaseQRankSum
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SIO_000300: 4.87e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.82e-1

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.597695e6

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

Latino
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allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66734
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Other
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African
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allele frequency: 3.843936190659235e-4
allele num: 10406
num of homozygotes: 0

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

East Asian
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num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

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

European (Finnish)
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allele frequency: 0.0e0
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African
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European (Non-Finnish)
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allele num: 66736
num of homozygotes: 0

Latino
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Other
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East Asian
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DP
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BaseQRankSum
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QD
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MQ
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InbreedingCoeff
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MQRankSum
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VQSLOD
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FS
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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European (Finnish)
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South Asian
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European (Non-Finnish)
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allele num: 66732
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Latino
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East Asian
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African
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FS
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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QD
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ReadPosRankSum
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MQ
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VQSLOD
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MQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele num: 8654
num of homozygotes: 0

European (Finnish)
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Other
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Latino
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South Asian
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European (Non-Finnish)
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allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

African
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allele num: 10406
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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DP
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QD
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MQRankSum
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MQ
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ReadPosRankSum
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FS
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
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Other
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African
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allele frequency: 5.765904285988853e-4
allele num: 10406
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

ClippingRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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VQSLOD
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MQ
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MQRankSum
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DP
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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Latino
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European (Non-Finnish)
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allele num: 66738
num of homozygotes: 0

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

InbreedingCoeff
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VQSLOD
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MQRankSum
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ClippingRankSum
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MQ
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FS
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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South Asian
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DP
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QD
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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FS
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MQ
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ReadPosRankSum
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SIO_000300: 4.52e-1

VQSLOD
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

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

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

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

Latino
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allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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European (Finnish)
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African
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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MQ
type: SiteQuality
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FS
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BaseQRankSum
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MQRankSum
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VQSLOD
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QD
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GenotypeQuality
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variant carriers: 0

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

East Asian
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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Other
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.600088e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.411e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

MQRankSum
type: SiteQuality
SIO_000300: -6.59e-1

FS
type: SiteQuality
SIO_000300: 1.488e0

QD
type: SiteQuality
SIO_000300: 1.086e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.08e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4381
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1983
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.60031e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.505e0

FS
type: SiteQuality
SIO_000300: 2.152e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e-1

QD
type: SiteQuality
SIO_000300: 1.122e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 9

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

East Asian
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allele frequency: 0.0e0
allele num: 8654
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)
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allele count: 5
allele frequency: 7.491983577571999e-5
allele num: 66738
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.047777441790142e-4
allele num: 6614
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

InbreedingCoeff
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SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 5.96e1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

DP
type: SiteQuality
SIO_000300: 1.601046e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

FS
type: SiteQuality
SIO_000300: 1.757e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.84e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.36e-1

QD
type: SiteQuality
SIO_000300: 1.398e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.84e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.36e-1

QD
type: SiteQuality
SIO_000300: 1.398e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 5.96e1

FS
type: SiteQuality
SIO_000300: 1.757e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

DP
type: SiteQuality
SIO_000300: 1.601046e6

GenotypeQuality
all individuals: 2886
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.1659e1

DP
type: SiteQuality
SIO_000300: 1.601774e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

QD
type: SiteQuality
SIO_000300: 1.02e1

MQRankSum
type: SiteQuality
SIO_000300: -8.98e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.88e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.871e0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.26e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.452e1

VQSLOD
type: SiteQuality
SIO_000300: 7.24e-1

FS
type: SiteQuality
SIO_000300: 9.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.601761e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996883241428914e-5
allele num: 66736
num of homozygotes: 0

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

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

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

African
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allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

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

East Asian
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allele frequency: 0.0e0
allele num: 8652
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 2.882952142994427e-4
allele num: 10406
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Other
type: Population
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Latino
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MQRankSum
type: SiteQuality
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ClippingRankSum
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FS
type: SiteQuality
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MQ
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ReadPosRankSum
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QD
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VQSLOD
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DP
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BaseQRankSum
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InbreedingCoeff
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GenotypeQuality
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variant carriers: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.996793431028799e-5
allele num: 66738
num of homozygotes: 0

African
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Other
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South Asian
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European (Finnish)
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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MQ
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VQSLOD
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InbreedingCoeff
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QD
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
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Latino
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allele frequency: 8.637070305752289e-5
allele num: 11578
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Other
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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East Asian
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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MQ
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FS
type: SiteQuality
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DP
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MQRankSum
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QD
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1987
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 855
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4437
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 2401
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 876
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 14
allele frequency: 8.479709267110841e-4
allele num: 16510
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.603448e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.0e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

MQRankSum
type: SiteQuality
SIO_000300: 1.78e-1

QD
type: SiteQuality
SIO_000300: 1.25e1

FS
type: SiteQuality
SIO_000300: 5.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.579e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-1

GenotypeQuality
all individuals: 40817
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2399
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 877
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1987
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2883
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.073e0

QD
type: SiteQuality
SIO_000300: 1.638e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.242e1

VQSLOD
type: SiteQuality
SIO_000300: -9.14e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.9e-2

DP
type: SiteQuality
SIO_000300: 1.602974e6

FS
type: SiteQuality
SIO_000300: 3.912e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.465e0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 441
bin: 8.75e1
variant carriers: 6

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 23104
bin: 6.25e1
variant carriers: 5

GenotypeQuality
all individuals: 1567
bin: 7.75e1
variant carriers: 9

GenotypeQuality
all individuals: 3541
bin: 6.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 1272
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 29175
bin: 9.75e1
variant carriers: 26508

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1042
bin: 8.25e1
variant carriers: 9

East Asian
type: Population
allele count: 1037
allele frequency: 1.198566805362922e-1
allele num: 8652
num of homozygotes: 67

Latino
type: Population
allele count: 1964
allele frequency: 1.697200138264777e-1
allele num: 11572
num of homozygotes: 167

European (Non-Finnish)
type: Population
allele count: 20828
allele frequency: 3.121141281544087e-1
allele num: 66732
num of homozygotes: 3349

European (Finnish)
type: Population
allele count: 2045
allele frequency: 3.093797276853253e-1
allele num: 6610
num of homozygotes: 303

African
type: Population
allele count: 1080
allele frequency: 1.038261872716785e-1
allele num: 10402
num of homozygotes: 60

South Asian
type: Population
allele count: 3803
allele frequency: 2.303731524109523e-1
allele num: 16508
num of homozygotes: 439

Other
type: Population
allele count: 238
allele frequency: 2.621145374449339e-1
allele num: 908
num of homozygotes: 33

DP
type: SiteQuality
SIO_000300: 4.084238e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.47e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.71e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.54e0

QD
type: SiteQuality
SIO_000300: 1.484e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.67e-1

GenotypeQuality
all individuals: 29175
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 1567
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3541
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 441
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1042
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 9.613535858488752e-4
allele num: 10402
num of homozygotes: 0

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 4.084238e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.47e-1

QD
type: SiteQuality
SIO_000300: 1.484e1

MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
SIO_000300: 6.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.71e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 2127
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1592
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 779
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25310
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4182
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1131
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1640
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -8.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.13e-1

QD
type: SiteQuality
SIO_000300: 1.276e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.61119e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.81e0

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

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

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

GenotypeQuality
all individuals: 4172
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23823
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1588
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1128
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 779
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.610217e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.09e0

FS
type: SiteQuality
SIO_000300: 3.29e0

VQSLOD
type: SiteQuality
SIO_000300: -2.231e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.590000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.401e1

GenotypeQuality
all individuals: 2123
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4163
bin: 6.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1638
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23821
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 25256
bin: 6.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.311604253351826e-4
allele num: 8652
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.02e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.609441e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.93e0

VQSLOD
type: SiteQuality
SIO_000300: 2.34e0

MQRankSum
type: SiteQuality
SIO_000300: 7.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

QD
type: SiteQuality
SIO_000300: 1.215e1

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

GenotypeQuality
all individuals: 31
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23818
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2120
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25217
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500420117632937e-5
allele num: 66648
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e0

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

FS
type: SiteQuality
SIO_000300: 3.578e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.967e1

DP
type: SiteQuality
SIO_000300: 2.608941e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.320000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

QD
type: SiteQuality
SIO_000300: 1.015e1

VQSLOD
type: SiteQuality
SIO_000300: -6.6e-3

GenotypeQuality
all individuals: 33
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1637
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25213
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 777
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variant carriers: 0

GenotypeQuality
all individuals: 4156
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1126
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1581
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2120
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.633911368015414e-5
allele num: 10380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66636
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.60858e6

MQRankSum
type: SiteQuality
SIO_000300: -1.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.773e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.083e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.85e-1

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1125
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 773
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24220
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1629
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2091
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1543
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503126503126503e-5
allele num: 66528
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.933861922258751e-4
allele num: 10342
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

MQ
type: SiteQuality
SIO_000300: 5.966e1

MQRankSum
type: SiteQuality
SIO_000300: 1.29e-1

DP
type: SiteQuality
SIO_000300: 2.594626e6

FS
type: SiteQuality
SIO_000300: 1.399e0

QD
type: SiteQuality
SIO_000300: 1.288e1

VQSLOD
type: SiteQuality
SIO_000300: 9.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e0

GenotypeQuality
all individuals: 247
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1627
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2086
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 532
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1534
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1125
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23807
bin: 9.75e1
variant carriers: 2

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.006976184748617e-5
allele num: 66512
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.3e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

MQRankSum
type: SiteQuality
SIO_000300: 9.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.28e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

DP
type: SiteQuality
SIO_000300: 2.591017e6

QD
type: SiteQuality
SIO_000300: 1.627e1

GenotypeQuality
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1522
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23924
bin: 9.75e1
variant carriers: 130

GenotypeQuality
all individuals: 2073
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1119
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1620
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 4.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 70
allele frequency: 8.103727714748784e-3
allele num: 8638
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.085686465433301e-5
allele num: 16432
num of homozygotes: 0

Latino
type: Population
allele count: 56
allele frequency: 4.842615012106538e-3
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.015942246954429e-5
allele num: 66490
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.27e0

MQ
type: SiteQuality
SIO_000300: 6.01e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.63e-1

FS
type: SiteQuality
SIO_000300: 7.14e-1

QD
type: SiteQuality
SIO_000300: 1.487e1

DP
type: SiteQuality
SIO_000300: 2.592216e6

GenotypeQuality
all individuals: 36
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51135
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 579
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1226
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 818
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.017571308220002e-5
allele num: 66472
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16232
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

QD
type: SiteQuality
SIO_000300: 1.366e1

MQRankSum
type: SiteQuality
SIO_000300: -5.54e-1

FS
type: SiteQuality
SIO_000300: 2.955e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.313e0

MQ
type: SiteQuality
SIO_000300: 5.987e1

VQSLOD
type: SiteQuality
SIO_000300: 9.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.62e-1

DP
type: SiteQuality
SIO_000300: 7.195038e6

GenotypeQuality
all individuals: 436
bin: 7.25e1
variant carriers: 19

GenotypeQuality
all individuals: 206
bin: 3.25e1
variant carriers: 21

GenotypeQuality
all individuals: 356
bin: 8.75e1
variant carriers: 24

GenotypeQuality
all individuals: 593
bin: 8.25e1
variant carriers: 43

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 4

GenotypeQuality
all individuals: 137
bin: 4.25e1
variant carriers: 18

GenotypeQuality
all individuals: 69
bin: 5.75e1
variant carriers: 24

GenotypeQuality
all individuals: 102
bin: 5.25e1
variant carriers: 25

GenotypeQuality
all individuals: 2445
bin: 6.25e1
variant carriers: 31

GenotypeQuality
all individuals: 53224
bin: 9.75e1
variant carriers: 24004

Other
type: Population
allele count: 231
allele frequency: 2.572383073496659e-1
allele num: 898
num of homozygotes: 44

European (Non-Finnish)
type: Population
allele count: 16637
allele frequency: 2.503385596918354e-1
allele num: 66458
num of homozygotes: 2331

European (Finnish)
type: Population
allele count: 1614
allele frequency: 2.440278197762322e-1
allele num: 6614
num of homozygotes: 219

Latino
type: Population
allele count: 1559
allele frequency: 1.351890391952827e-1
allele num: 11532
num of homozygotes: 140

South Asian
type: Population
allele count: 3809
allele frequency: 2.339105870793417e-1
allele num: 16284
num of homozygotes: 575

East Asian
type: Population
allele count: 1016
allele frequency: 1.184149184149184e-1
allele num: 8580
num of homozygotes: 120

African
type: Population
allele count: 3545
allele frequency: 3.419174382716049e-1
allele num: 10368
num of homozygotes: 641

QD
type: SiteQuality
SIO_000300: 2.084e1

VQSLOD
type: SiteQuality
SIO_000300: 4.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.569999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.962e1

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.147e0

FS
type: SiteQuality
SIO_000300: 7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.65e-1

DP
type: SiteQuality
SIO_000300: 7.828742e6

GenotypeQuality
all individuals: 336
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 776
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1927
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 85
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66498
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.126700159294204e-5
allele num: 16322
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

QD
type: SiteQuality
SIO_000300: 2.608e1

VQSLOD
type: SiteQuality
SIO_000300: 3.96e0

FS
type: SiteQuality
SIO_000300: 1.413e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.85e-2

DP
type: SiteQuality
SIO_000300: 9.018947e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.96e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

GenotypeQuality
all individuals: 61
bin: 2.75e1
variant carriers: 18

GenotypeQuality
all individuals: 567
bin: 8.25e1
variant carriers: 145

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 10

GenotypeQuality
all individuals: 130
bin: 3.75e1
variant carriers: 52

GenotypeQuality
all individuals: 336
bin: 7.25e1
variant carriers: 68

GenotypeQuality
all individuals: 106
bin: 3.25e1
variant carriers: 46

GenotypeQuality
all individuals: 54514
bin: 9.75e1
variant carriers: 46387

GenotypeQuality
all individuals: 652
bin: 9.25e1
variant carriers: 149

GenotypeQuality
all individuals: 76
bin: 4.25e1
variant carriers: 42

GenotypeQuality
all individuals: 583
bin: 7.75e1
variant carriers: 132

African
type: Population
allele count: 6574
allele frequency: 6.341886938066756e-1
allele num: 10366
num of homozygotes: 2069

Other
type: Population
allele count: 519
allele frequency: 5.753880266075388e-1
allele num: 902
num of homozygotes: 154

South Asian
type: Population
allele count: 8402
allele frequency: 5.14765347383899e-1
allele num: 16322
num of homozygotes: 2320

East Asian
type: Population
allele count: 2317
allele frequency: 2.704248366013072e-1
allele num: 8568
num of homozygotes: 421

Latino
type: Population
allele count: 5668
allele frequency: 4.919284846380836e-1
allele num: 11522
num of homozygotes: 1538

European (Finnish)
type: Population
allele count: 3420
allele frequency: 5.172413793103449e-1
allele num: 6612
num of homozygotes: 891

European (Non-Finnish)
type: Population
allele count: 40962
allele frequency: 6.159884507804746e-1
allele num: 66498
num of homozygotes: 12897

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.85e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.96e0

QD
type: SiteQuality
SIO_000300: 2.608e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.96e0

FS
type: SiteQuality
SIO_000300: 1.413e0

DP
type: SiteQuality
SIO_000300: 9.018947e6

GenotypeQuality
all individuals: 536
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 125
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 919
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 892
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2400
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51968
bin: 9.75e1
variant carriers: 1

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502990951994469e-5
allele num: 66534
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 7.184e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.74e0

MQ
type: SiteQuality
SIO_000300: 5.903e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.37e-1

QD
type: SiteQuality
SIO_000300: 1.41e1

VQSLOD
type: SiteQuality
SIO_000300: -6.179e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.83e-1

DP
type: SiteQuality
SIO_000300: 8.015174e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

GenotypeQuality
all individuals: 534
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2424
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 206
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 891
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 2.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.329373398555789e-4
allele num: 8586
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66524
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16350
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.82e1

QD
type: SiteQuality
SIO_000300: 1.333e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.78e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.815e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

FS
type: SiteQuality
SIO_000300: 5.582e0

DP
type: SiteQuality
SIO_000300: 8.015293e6

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.831e0

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

GenotypeQuality
all individuals: 206
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 173
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2552
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 899
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 4.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.006162633398467e-5
allele num: 66530
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16346
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.339e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.57e0

VQSLOD
type: SiteQuality
SIO_000300: 7.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.73e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

DP
type: SiteQuality
SIO_000300: 8.016679e6

MQRankSum
type: SiteQuality
SIO_000300: 3.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.327e0

QD
type: SiteQuality
SIO_000300: 1.534e1

GenotypeQuality
all individuals: 954
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

Other
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allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66550
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.104260774020266e-5
allele num: 16382
num of homozygotes: 0

FS
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SIO_000300: 1.069e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.97e-1

BaseQRankSum
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ReadPosRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.511e1

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

DP
type: SiteQuality
SIO_000300: 8.020203e6

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16382
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.50253929140247e-5
allele num: 66554
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
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VQSLOD
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FS
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DP
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MQRankSum
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QD
type: SiteQuality
SIO_000300: 1.982e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
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SIO_000300: 9.44e-1

GenotypeQuality
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variant carriers: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501862309263487e-5
allele num: 66584
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.933e1

MQRankSum
type: SiteQuality
SIO_000300: 9.69e-1

BaseQRankSum
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QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.92e-1

FS
type: SiteQuality
SIO_000300: 1.184e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 8.022735e6

VQSLOD
type: SiteQuality
SIO_000300: 6.830000000000001e-1

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.003724618526973e-5
allele num: 66584
num of homozygotes: 0

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

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

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

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

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

BaseQRankSum
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ReadPosRankSum
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SIO_000300: -1.78e-1

ClippingRankSum
type: SiteQuality
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DP
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MQ
type: SiteQuality
SIO_000300: 5.937e1

VQSLOD
type: SiteQuality
SIO_000300: 4.61e0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501862309263487e-5
allele num: 66584
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQ
type: SiteQuality
SIO_000300: 5.937e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.79e0

VQSLOD
type: SiteQuality
SIO_000300: 4.61e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: 1.0e-4

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.23e-1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

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

African
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allele count: 5
allele frequency: 4.820671037408407e-4
allele num: 10372
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66590
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: -4.887e0

DP
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SIO_000300: 8.023983e6

QD
type: SiteQuality
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VQSLOD
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MQ
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SIO_000300: 5.96e1

MQRankSum
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ClippingRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501231009427731e-5
allele num: 66612
num of homozygotes: 0

East Asian
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num of homozygotes: 0

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

VQSLOD
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BaseQRankSum
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DP
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MQRankSum
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ReadPosRankSum
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FS
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MQ
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InbreedingCoeff
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QD
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66618
num of homozygotes: 0

South Asian
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allele num: 16462
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Other
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MQ
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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DP
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VQSLOD
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BaseQRankSum
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QD
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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num of homozygotes: 0

European (Non-Finnish)
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African
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South Asian
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Other
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East Asian
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Latino
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QD
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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FS
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DP
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InbreedingCoeff
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MQ
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MQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

East Asian
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South Asian
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European (Finnish)
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Latino
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allele num: 11542
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African
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Other
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num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.31e-1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 8.025327e6

MQ
type: SiteQuality
SIO_000300: 5.957e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.394e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.25e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 9.624639076034648e-5
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European (Non-Finnish)
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Other
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allele frequency: 0.0e0
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QD
type: SiteQuality
SIO_000300: 1.207e1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.189e0

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -7.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 8.02565e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.799e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Latino
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num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.038e0

MQRankSum
type: SiteQuality
SIO_000300: 1.53e-1

FS
type: SiteQuality
SIO_000300: 7.028e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 8.026093e6

QD
type: SiteQuality
SIO_000300: 1.331e1

VQSLOD
type: SiteQuality
SIO_000300: 2.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.81e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

East Asian
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allele num: 8584
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.500330072615976e-5
allele num: 66652
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 904
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MQ
type: SiteQuality
SIO_000300: 5.947e1

FS
type: SiteQuality
SIO_000300: 6.182e0

InbreedingCoeff
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SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -6.137e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.596e0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 5.629999999999999e-1

DP
type: SiteQuality
SIO_000300: 8.026062e6

VQSLOD
type: SiteQuality
SIO_000300: 7.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.99e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

Latino
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allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66654
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African
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Other
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East Asian
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allele frequency: 3.494874184529357e-4
allele num: 8584
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.6e-1

VQSLOD
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BaseQRankSum
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FS
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InbreedingCoeff
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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SIO_000300: 8.026167e6

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.978e1