18-44561394-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561394
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561394
    reference: chr 18
allele count: 12
allele frequency: 1.001485536879705e-4
allele num: 119822
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.242G>C
  hgvsp: ENSP00000331302.4:p.Arg81Pro
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17857C>G
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11434C>G
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11368C>G
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34508C>G
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7500
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26811
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2840
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2191
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2329
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6444
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg81Pro
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

18-44561396-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561396
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561396
    reference: chr 18
allele count: 9
allele frequency: 7.514277126540426e-5
allele num: 119772
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.240C>T
  hgvsp: ENST00000332567.4:c.240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34510G>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11366G>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17855G>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11432G>A
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26792
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14668
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7490
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2175
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8827
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6430
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 36461
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp80Asp
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD

18-44561396-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561396
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561396
    reference: chr 18
allele count: 1
allele frequency: 8.349196807267141e-6
allele num: 119772
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.240C>A
  hgvsp: ENSP00000331302.4:p.Asp80Glu
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17855G>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11432G>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11366G>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34510G>T
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26792
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7490
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14668
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36461
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2175
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6430
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp80Glu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD

18-44561401-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561401
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561401
    reference: chr 18
allele count: 3
allele frequency: 2.510712372790573e-5
allele num: 119488
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34515C>G
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11427C>G
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.235G>C
  hgvsp: ENSP00000331302.4:p.Val79Leu
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11361C>G
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17850C>G
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14566
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2138
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35973
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2274
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val79Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD

18-44561405-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561405
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561405
    reference: chr 18
allele count: 42
allele frequency: 3.52006436689128e-4
allele num: 119316
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11357C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17846C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11423C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.231G>A
  hgvsp: ENST00000332567.4:c.231G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34519C>T
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26444
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7046
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14459
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 9.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2167
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8714
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35740
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val77Val
num of homozygotes: 1
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

18-44561408-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561408
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561408
    reference: chr 18
allele count: 26
allele frequency: 2.186711522287637e-4
allele num: 118900
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34522C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.228G>A
  hgvsp: ENST00000332567.4:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11420C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17843C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11354C>T
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6742
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14310
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25915
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6400
  bin: 9.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2054
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34796
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2206
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2598
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu76Leu
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ

18-44561412-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561412
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561412
    reference: chr 18
allele count: 1
allele frequency: 8.430565859580495e-6
allele num: 118616
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.224A>C
  hgvsp: ENSP00000331302.4:p.Lys75Thr
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17839T>G
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11350T>G
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11416T>G
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34526T>G
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25588
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14086
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2904
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6378
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34496
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys75Thr
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

18-44561414-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561414
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561414
    reference: chr 18
allele count: 1
allele frequency: 8.446659346228567e-6
allele num: 118390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11414C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34528C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.222G>A
  hgvsp: ENST00000332567.4:c.222G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11348C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17837C>T
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6571
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6378
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2160
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1995
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8258
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys74Lys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

18-44561420-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561420
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561420
    reference: chr 18
allele count: 1
allele frequency: 8.505426462082808e-6
allele num: 117572
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34534C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17831C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11342C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.216G>A
  hgvsp: ENST00000332567.4:c.216G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11408C>T
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13049
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23705
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4571
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7834
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1939
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4382
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg72Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum

18-44561421-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561421
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561421
    reference: chr 18
allele count: 1
allele frequency: 8.517016999965932e-6
allele num: 117412
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17830C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11341C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11407C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.215G>A
  hgvsp: ENSP00000331302.4:p.Arg72Gln
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34535C>T
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4845
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23422
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6495
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4586
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30702
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7738
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg72Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

18-44561422-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561422
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561422
    reference: chr 18
allele count: 5
allele frequency: 4.267813855030899e-5
allele num: 117156
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.214C>T
  hgvsp: ENSP00000331302.4:p.Arg72Trp
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11406G>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34536G>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11340G>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17829G>A
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6523
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5423
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12420
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1858
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5075
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29516
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6364
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2007
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg72Trp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP

18-44561425-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561425
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561425
    reference: chr 18
allele count: 2
allele frequency: 1.70995708007729e-5
allele num: 116962
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11403C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11337C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17826C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.211G>A
  hgvsp: ENSP00000331302.4:p.Ala71Thr
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34539C>T
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5994
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22238
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11985
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6363
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1964
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5563
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28962
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala71Thr
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/18-44561426-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561426
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561426
    reference: chr 18
allele count: 71
allele frequency: 6.082725060827251e-4
allele num: 116724
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.210G>T
  hgvsp: ENST00000332567.4:c.210G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17825C>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34540C>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11402C>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11336C>A
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11638
  bin: 3.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21722
  bin: 2.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6472
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6634
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2052
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7227
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5873
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6421
  bin: 9.75e1
  variant carriers: 71
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1943
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala70Ala
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

18-44561426-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561426
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561426
    reference: chr 18
allele count: 3
allele frequency: 2.570165518659402e-5
allele num: 116724
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11402C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17825C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.210G>A
  hgvsp: ENST00000332567.4:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11336C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34540C>T
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6472
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21722
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11638
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1730
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1943
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5873
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6421
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27842
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2052
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7227
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala70Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

18-44561427-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561427
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561427
    reference: chr 18
allele count: 1
allele frequency: 8.576770674305711e-6
allele num: 116594
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11401G>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.209C>T
  hgvsp: ENSP00000331302.4:p.Ala70Val
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17824G>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34541G>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11335G>A
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6504
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6736
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11495
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1728
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6342
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2054
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5944
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7091
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala70Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

18-44561429-TAAGTCTCTGGCA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561429
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561417
    reference: chr 18
allele count: 88
allele frequency: 7.554426206991278e-4
allele num: 116488
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsp: ENSP00000331302.4:p.Phe65_Asp68del
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11057
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3504
  bin: 1.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6545
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 9.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 21057
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6513
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2386
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1685
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1969
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7049
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Phe65_Asp68del
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
reference allele: TAAGTCTCTGGCA
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

18-44561434-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561434
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561434
    reference: chr 18
allele count: 3
allele frequency: 2.592061380013479e-5
allele num: 115738
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17817C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.202G>A
  hgvsp: ENSP00000331302.4:p.Asp68Asn
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34548C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11394C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11328C>T
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18582
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8903
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10264
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5410
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6007
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1822
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6693
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7510
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2605
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24351
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3365
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp68Asn
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

18-44561445-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561445
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561445
    reference: chr 18
allele count: 0
allele frequency: 0.0e0
allele num: 113000
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11383T>C
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11317T>C
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34559T>C
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17806T>C
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.191A>G
  hgvsp: ENSP00000331302.4:p.Asp64Gly
  variant of: http://identifiers.org/hgnc/30771
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 12460
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8424
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5056
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2540
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6333
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3337
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5250
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4054
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3278
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2365
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp64Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum

18-44561447-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561447
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561447
    reference: chr 18
allele count: 1
allele frequency: 8.903292437543403e-6
allele num: 112318
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.189C>A
  hgvsp: ENST00000332567.4:c.189C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11381G>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34561G>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17804G>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11315G>T
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11310
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11253
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12670
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2473
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5310
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3375
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6333
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2126
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12886
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5789
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8261
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly63Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

18-44561448-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561448
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561448
    reference: chr 18
allele count: 1
allele frequency: 8.896797153024911e-6
allele num: 112400
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17803C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11314C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11380C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.188G>A
  hgvsp: ENSP00000331302.4:p.Gly63Asp
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34562C>T
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12753
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4130
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10996
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9425
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3329
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4095
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12914
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6333
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8311
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2508
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5834
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly63Asp
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

18-44561450-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561450
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561450
    reference: chr 18
allele count: 1
allele frequency: 8.941824489868913e-6
allele num: 111834
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11378C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34564C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.186G>A
  hgvsp: ENST00000332567.4:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11312C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17801C>T
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13035
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3911
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9844
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6332
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3202
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4124
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5865
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1832
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2585
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5389
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8229
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val62Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS

18-44561459-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561459
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561459
    reference: chr 18
allele count: 3
allele frequency: 2.707874499043218e-5
allele num: 110788
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11369G>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34573G>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11303G>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.177C>T
  hgvsp: ENST00000332567.4:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17792G>A
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10855
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12040
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12957
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8666
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3300
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2937
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6335
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8109
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5232
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5794
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1447
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2310
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His59His
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ

18-44561466-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561466
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561466
    reference: chr 18
allele count: 2
allele frequency: 1.814618567177179e-5
allele num: 110216
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11296C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.170G>A
  hgvsp: ENSP00000331302.4:p.Arg57Gln
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17785C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11362C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34580C>T
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12173
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10622
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3279
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8004
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 665
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4900
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14518
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1701
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6334
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5634
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4001
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg57Gln
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

18-44561467-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561467
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561467
    reference: chr 18
allele count: 3
allele frequency: 2.723311546840959e-5
allele num: 110160
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11295G>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17784G>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.169C>T
  hgvsp: ENSP00000331302.4:p.Arg57Trp
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34581G>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11361G>A
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11732
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8373
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10554
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13701
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8015
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3447
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15530
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3929
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4719
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg57Trp
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

18-44561467-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561467
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561467
    reference: chr 18
allele count: 2
allele frequency: 1.815541031227306e-5
allele num: 110160
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.169C>A
  hgvsp: ENST00000332567.4:c.169C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11361G>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11295G>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17784G>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34581G>T
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 11732
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13701
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8373
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10554
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5544
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15530
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8015
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2445
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3447
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg57Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP

18-44561471-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561471
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561471
    reference: chr 18
allele count: 1
allele frequency: 9.04224537037037e-6
allele num: 110592
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11291G>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17780G>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.165C>T
  hgvsp: ENST00000332567.4:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34585G>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11357G>A
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10721
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4176
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1772
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6335
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7850
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5264
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3758
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1584
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2208
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15885
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg55Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

18-44561473-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561473
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561473
    reference: chr 18
allele count: 1
allele frequency: 9.04895484571532e-6
allele num: 110510
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11355G>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.163C>T
  hgvsp: ENSP00000331302.4:p.Arg55Cys
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11289G>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17778G>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34587G>A
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10025
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9870
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4060
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1502
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7871
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6335
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3596
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17849
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1414
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg55Cys
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

18-44561477-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561477
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561477
    reference: chr 18
allele count: 1
allele frequency: 9.0166447261645e-6
allele num: 110906
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17774C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.159G>A
  hgvsp: ENST00000332567.4:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34591C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11351C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11285C>T
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 17298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9598
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3529
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8400
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1160
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4613
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7702
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3306
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3563
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1604
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1618
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val53Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/18-44561480-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561480
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561480
    reference: chr 18
allele count: 2
allele frequency: 1.802841277853898e-5
allele num: 110936
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11282C>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34594C>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.156G>T
  hgvsp: ENST00000332567.4:c.156G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11348C>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17771C>A
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 9296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9092
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18646
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4079
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7204
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3679
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7477
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3056
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21258
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4236
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4203
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3158
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr52Thr
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

18-44561480-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561480
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561480
    reference: chr 18
allele count: 1
allele frequency: 9.014206389269489e-6
allele num: 110936
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34594C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17771C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.156G>A
  hgvsp: ENST00000332567.4:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11348C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11282C>T
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3679
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4079
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9092
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1584
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3158
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21258
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7477
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6346
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr52Thr
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum

18-44561481-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561481
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561481
    reference: chr 18
allele count: 253
allele frequency: 2.274975272007913e-3
allele num: 111210
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34595G>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11347G>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.155C>T
  hgvsp: ENSP00000331302.4:p.Thr52Met
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17770G>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11281G>A
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3769
  bin: 3.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6687
  bin: 1.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9405
  bin: 2.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19294
  bin: 2.25e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8794
  bin: 1.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2926
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7360
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2951
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22011
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1633
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4000
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr52Met
num of homozygotes: 1
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

18-44561488-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561488
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561488
    reference: chr 18
allele count: 1
allele frequency: 8.940385509423166e-6
allele num: 111852
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11274T>C
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11340T>C
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34602T>C
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17763T>C
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.148A>G
  hgvsp: ENSP00000331302.4:p.Arg50Gly
  variant of: http://identifiers.org/hgnc/30771
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4624
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7443
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22279
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24899
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1962
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2100
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6805
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3171
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1790
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2368
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg50Gly
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ

18-44561496-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561496
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561496
    reference: chr 18
allele count: 1
allele frequency: 8.880994671403197e-6
allele num: 112600
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11332G>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11266G>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17755G>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34610G>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.140C>T
  hgvsp: ENSP00000331302.4:p.Thr47Ile
  variant of: http://identifiers.org/hgnc/30771
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3769
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10978
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2168
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6399
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2592
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25864
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr47Ile
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/18-44561498-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561498
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561498
    reference: chr 18
allele count: 2
allele frequency: 1.77292390610595e-5
allele num: 112808
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17753C>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34612C>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11264C>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.138G>T
  hgvsp: ENSP00000331302.4:p.Glu46Asp
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11330C>A
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3686
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5803
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11188
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2229
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6401
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 26891
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1828
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5830
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2421
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu46Asp
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

18-44561502-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561502
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561502
    reference: chr 18
allele count: 1
allele frequency: 8.816631694027614e-6
allele num: 113422
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17749G>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11260G>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34616G>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.134C>A
  hgvsp: ENSP00000331302.4:p.Ala45Glu
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11326G>T
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4633
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11832
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2404
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1904
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5121
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6417
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2122
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala45Glu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

18-44561508-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561508
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561508
    reference: chr 18
allele count: 6
allele frequency: 5.218480378513777e-5
allele num: 114976
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17743A>G
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.128T>C
  hgvsp: ENSP00000331302.4:p.Ile43Thr
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11254A>G
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11320A>G
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34622A>G
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12545
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2859
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27211
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2723
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30721
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2349
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4046
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6246
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile43Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

18-44561515-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561515
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561515
    reference: chr 18
allele count: 1
allele frequency: 8.624407072013798e-6
allele num: 115950
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17736C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11247C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34629C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.121G>A
  hgvsp: ENSP00000331302.4:p.Ala41Thr
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11313C>T
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13407
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2472
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1801
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6425
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3265
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2920
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala41Thr
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

18-44561516-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561516
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561516
    reference: chr 18
allele count: 60322
allele frequency: 5.085828949143397e-1
allele num: 118608
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11246C>G
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17735C>G
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.120G>C
  hgvsp: ENST00000332567.4:c.120G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34630C>G
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11312C>G
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 327
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 7.5e0
  variant carriers: 243
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 5.25e1
  variant carriers: 1443
genotype depth: GenotypeDepth
  all individuals: 2723
  bin: 1.75e1
  variant carriers: 2444
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 6865
  bin: 3.75e1
  variant carriers: 6226
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 161
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 4.75e1
  variant carriers: 2642
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.25e1
  variant carriers: 155
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.75e1
  variant carriers: 751
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 1.25e1
  variant carriers: 985
genotype depth: GenotypeDepth
  all individuals: 10785
  bin: 2.75e1
  variant carriers: 6894
genotype depth: GenotypeDepth
  all individuals: 11605
  bin: 2.25e1
  variant carriers: 4908
genotype depth: GenotypeDepth
  all individuals: 9307
  bin: 3.25e1
  variant carriers: 7467
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 6.25e1
  variant carriers: 484
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 217
genotype depth: GenotypeDepth
  all individuals: 5462
  bin: 9.75e1
  variant carriers: 5367
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 117
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 123
genotype depth: GenotypeDepth
  all individuals: 4628
  bin: 4.25e1
  variant carriers: 4233
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 3.25e1
  variant carriers: 197
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.25e1
  variant carriers: 74
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 7.5e0
  variant carriers: 68
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 4.75e1
  variant carriers: 386
genotype quality: GenotypeQuality
  all individuals: 2505
  bin: 6.75e1
  variant carriers: 835
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 1.75e1
  variant carriers: 112
genotype quality: GenotypeQuality
  all individuals: 37772
  bin: 9.75e1
  variant carriers: 37020
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 2.75e1
  variant carriers: 139
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 5.25e1
  variant carriers: 553
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.5e0
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 1424
  bin: 8.25e1
  variant carriers: 952
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 8.75e1
  variant carriers: 585
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 5.75e1
  variant carriers: 380
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 4.25e1
  variant carriers: 253
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 3.75e1
  variant carriers: 266
hgvs: p.Thr40Thr
num of homozygotes: 15615
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

18-44561521-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561521
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561521
    reference: chr 18
allele count: 2
allele frequency: 1.671877351077525e-5
allele num: 119626
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11307T>C
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11241T>C
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17730T>C
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.115A>G
  hgvsp: ENSP00000331302.4:p.Met39Val
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34635T>C
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12563
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2865
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3620
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7183
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4070
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Met39Val
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

18-44561531-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561531
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561531
    reference: chr 18
allele count: 3
allele frequency: 2.502168546073264e-5
allele num: 119896
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11231G>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11297G>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17720G>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.105C>T
  hgvsp: ENST00000332567.4:c.105C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34645G>A
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 7099
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13358
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4429
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4069
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3601
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21599
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7329
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser35Ser
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

18-44561534-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561534
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561534
    reference: chr 18
allele count: 1
allele frequency: 8.328613785521537e-6
allele num: 120068
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17717G>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11228G>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11294G>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34648G>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.102C>A
  hgvsp: ENST00000332567.4:c.102C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30771
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5027
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2905
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7411
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22283
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu34Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/18-44561543-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561543
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561543
    reference: chr 18
allele count: 1
allele frequency: 8.308546170591069e-6
allele num: 120358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11285C>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11219C>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34657C>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.93G>T
  hgvsp: ENSP00000331302.4:p.Leu31Phe
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17708C>A
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14215
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15527
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7507
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23205
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4122
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1974
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10923
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu31Phe
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

18-44561544-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561544
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561544
    reference: chr 18
allele count: 3
allele frequency: 2.492273950752667e-5
allele num: 120372
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.92T>C
  hgvsp: ENSP00000331302.4:p.Leu31Ser
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11284A>G
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17707A>G
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11218A>G
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34658A>G
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11778
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7111
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4121
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3659
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10926
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1978
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5056
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2912
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7513
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu31Ser
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

18-44561546-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561546
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561546
    reference: chr 18
allele count: 1
allele frequency: 8.304958059961797e-6
allele num: 120410
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17705A>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34660A>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11282A>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.90T>A
  hgvsp: ENSP00000331302.4:p.Tyr30Ter
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11216A>T
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14291
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10924
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23306
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3661
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4120
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7526
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1977
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Tyr30Ter
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

18-44561549-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561549
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561549
    reference: chr 18
allele count: 1
allele frequency: 8.303854649328218e-6
allele num: 120426
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11279T>G
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11213T>G
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.87A>C
  hgvsp: ENSP00000331302.4:p.Lys29Asn
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17702T>G
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34663T>G
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11786
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7111
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10922
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5060
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1979
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2912
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7522
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys29Asn
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

18-44561554-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561554
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561554
    reference: chr 18
allele count: 2
allele frequency: 1.659943893896386e-5
allele num: 120486
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11274C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34668C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17697C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11208C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.82G>A
  hgvsp: ENSP00000331302.4:p.Glu28Lys
  variant of: http://identifiers.org/hgnc/30771
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1980
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23506
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10923
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3666
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu28Lys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD

18-44561558-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561558
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561558
    reference: chr 18
allele count: 1
allele frequency: 8.298066550493736e-6
allele num: 120510
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34672C>G
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11204C>G
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17693C>G
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11270C>G
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.78G>C
  hgvsp: ENSP00000331302.4:p.Lys26Asn
  variant of: http://identifiers.org/hgnc/30771
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23566
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10924
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2916
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1981
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3669
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4120
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys26Asn
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

18-44561565-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561565
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561565
    reference: chr 18
allele count: 1
allele frequency: 8.295863682367972e-6
allele num: 120542
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.71C>T
  hgvsp: ENSP00000331302.4:p.Pro24Leu
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17686G>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11263G>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11197G>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34679G>A
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3668
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4123
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10924
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23647
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro24Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

18-44561570-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561570
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561570
    reference: chr 18
allele count: 2
allele frequency: 1.65873239670244e-5
allele num: 120574
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34684C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17681C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11258C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11192C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.66G>A
  hgvsp: ENST00000332567.4:c.66G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30771
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15751
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4428
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7104
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1981
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10924
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7536
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3671
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23620
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr22Thr
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

18-44561591-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561591
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561591
    reference: chr 18
allele count: 13
allele frequency: 1.077782752159711e-4
allele num: 120618
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34705C>G
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11171C>G
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17660C>G
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11237C>G
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.45G>C
  hgvsp: ENSP00000331302.4:p.Gln15His
  variant of: http://identifiers.org/hgnc/30771
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7096
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4422
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3673
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2920
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4126
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10934
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7525
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln15His
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

18-44561592-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561592
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561592
    reference: chr 18
allele count: 1
allele frequency: 8.290636555074699e-6
allele num: 120618
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11170T>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34706T>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11236T>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.44A>T
  hgvsp: ENSP00000331302.4:p.Gln15Leu
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17659T>A
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7098
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15846
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7519
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2921
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1979
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4125
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3673
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln15Leu
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

18-44561601-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561601
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561601
    reference: chr 18
allele count: 12
allele frequency: 9.95041377137266e-5
allele num: 120598
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11227T>C
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17650T>C
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34715T>C
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11161T>C
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.35A>G
  hgvsp: ENSP00000331302.4:p.Glu12Gly
  variant of: http://identifiers.org/hgnc/30771
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 7098
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4422
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2921
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23619
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10935
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 5074
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7527
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu12Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS

http://identifiers.org/exac.variant/18-44561603-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561603
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561603
    reference: chr 18
allele count: 1
allele frequency: 8.291186468783682e-6
allele num: 120610
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34717C>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17648C>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.33G>T
  hgvsp: ENST00000332567.4:c.33G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11159C>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11225C>A
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7096
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1978
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3672
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10933
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23606
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5074
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7528
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val11Val
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

18-44561610-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561610
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561610
    reference: chr 18
allele count: 18
allele frequency: 1.493032514930325e-4
allele num: 120560
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17641T>C
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11152T>C
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11218T>C
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.26A>G
  hgvsp: ENSP00000331302.4:p.His9Arg
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34724T>C
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7096
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15832
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14206
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11808
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4122
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2921
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5077
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3674
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23512
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1978
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
hgvs: p.His9Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
reference allele: T
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum

18-44561615-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561615
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561615
    reference: chr 18
allele count: 4
allele frequency: 3.318785988085559e-5
allele num: 120526
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11147C>G
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.21G>C
  hgvsp: ENST00000332567.4:c.21G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17636C>G
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11213C>G
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34729C>G
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15818
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4423
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23466
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5074
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10940
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3670
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4122
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7501
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr7Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

18-44561615-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561615
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561615
    reference: chr 18
allele count: 1
allele frequency: 8.296964970213896e-6
allele num: 120526
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17636C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34729C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11213C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11147C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.21G>A
  hgvsp: ENST00000332567.4:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30771
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15818
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7501
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2920
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3670
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5074
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr7Thr
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

18-44561616-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561616
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561616
    reference: chr 18
allele count: 1
allele frequency: 8.298066550493736e-6
allele num: 120510
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11146G>C
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34730G>C
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.20C>G
  hgvsp: ENSP00000331302.4:p.Thr7Arg
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11212G>C
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17635G>C
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4424
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7095
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14181
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4123
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23489
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2921
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10936
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5073
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr7Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ

18-44561619-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561619
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561619
    reference: chr 18
allele count: 6913
allele frequency: 5.736643818565051e-2
allele num: 120506
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11209G>C
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17632G>C
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34733G>C
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.17C>G
  hgvsp: ENSP00000331302.4:p.Thr6Ser
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11143G>C
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14281
  bin: 2.75e1
  variant carriers: 114
genotype depth: GenotypeDepth
  all individuals: 6759
  bin: 3.75e1
  variant carriers: 198
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 6.25e1
  variant carriers: 641
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 4.75e1
  variant carriers: 390
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 8.75e1
  variant carriers: 356
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.5e0
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 4.25e1
  variant carriers: 292
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 9.25e1
  variant carriers: 304
genotype depth: GenotypeDepth
  all individuals: 12000
  bin: 2.25e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.25e1
  variant carriers: 414
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 6.75e1
  variant carriers: 591
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 7.75e1
  variant carriers: 523
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 7.25e1
  variant carriers: 611
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 5.25e1
  variant carriers: 457
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 9.75e1
  variant carriers: 975
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 5.75e1
  variant carriers: 480
genotype depth: GenotypeDepth
  all individuals: 10876
  bin: 3.25e1
  variant carriers: 176
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 20807
  bin: 6.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 2655
  bin: 9.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 16304
  bin: 9.75e1
  variant carriers: 6624
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3269
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4520
  bin: 7.75e1
  variant carriers: 10
hgvs: p.Thr6Ser
num of homozygotes: 242
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

18-44561619-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561619
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561619
    reference: chr 18
allele count: 14
allele frequency: 1.16176787877782e-4
allele num: 120506
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17632G>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11143G>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34733G>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.17C>A
  hgvsp: ENSP00000331302.4:p.Thr6Asn
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11209G>T
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6759
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10876
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2655
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16304
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 1765
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20807
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4520
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr6Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

18-44561621-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561621
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561621
    reference: chr 18
allele count: 3
allele frequency: 2.490370567140391e-5
allele num: 120464
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.15C>T
  hgvsp: ENST00000332567.4:c.15C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34735G>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11207G>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17630G>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11141G>A
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14332
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4627
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3807
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1828
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20808
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6803
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser5Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD

18-44561622-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561622
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561622
    reference: chr 18
allele count: 8
allele frequency: 6.640547181087722e-5
allele num: 120472
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11206G>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34736G>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17629G>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.14C>T
  hgvsp: ENSP00000331302.4:p.Ser5Phe
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11140G>A
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14330
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6844
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10931
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3317
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4626
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20836
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser5Phe
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

18-44561629-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561629
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561629
    reference: chr 18
allele count: 4
allele frequency: 3.321597023849066e-5
allele num: 120424
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11133C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11199C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34743C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.7G>A
  hgvsp: ENSP00000331302.4:p.Ala3Thr
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17622C>T
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6842
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10966
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20907
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6801
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3317
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2802
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3800
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15490
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Ala3Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

18-44561630-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561630
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561630
    reference: chr 18
allele count: 1
allele frequency: 8.306337735692333e-6
allele num: 120390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11198C>G
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17621C>G
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.6G>C
  hgvsp: ENST00000332567.4:c.6G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34744C>G
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11132C>G
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4518
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6685
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20798
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3274
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2649
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16265
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala2Ala
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

18-44561630-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561630
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561630
    reference: chr 18
allele count: 6917
allele frequency: 5.745493811778387e-2
allele num: 120390
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.6G>A
  hgvsp: ENST00000332567.4:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11198C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34744C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17621C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11132C>T
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 9.75e1
  variant carriers: 656
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.5e0
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 4.75e1
  variant carriers: 500
genotype depth: GenotypeDepth
  all individuals: 6849
  bin: 3.75e1
  variant carriers: 293
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 7.25e1
  variant carriers: 545
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 5.75e1
  variant carriers: 697
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.75e1
  variant carriers: 453
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10941
  bin: 3.25e1
  variant carriers: 213
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.75e1
  variant carriers: 256
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 6.25e1
  variant carriers: 647
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 345
genotype depth: GenotypeDepth
  all individuals: 4518
  bin: 4.25e1
  variant carriers: 406
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.25e1
  variant carriers: 187
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.75e1
  variant carriers: 592
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 5.25e1
  variant carriers: 592
genotype depth: GenotypeDepth
  all individuals: 14349
  bin: 2.75e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 11833
  bin: 2.25e1
  variant carriers: 70
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 2.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3274
  bin: 7.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 4505
  bin: 7.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 3705
  bin: 8.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 8.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 2649
  bin: 9.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 16265
  bin: 9.75e1
  variant carriers: 6606
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 1
hgvs: p.Ala2Ala
num of homozygotes: 243
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/18-44561632-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561632
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561632
    reference: chr 18
allele count: 2
allele frequency: 1.66281447978849e-5
allele num: 120278
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.4G>T
  hgvsp: ENSP00000331302.4:p.Ala2Ser
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11130C>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11196C>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17619C>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34746C>A
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7758
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5038
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10463
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3687
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4116
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2903
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala2Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/18-44561633-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561633
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561633
    reference: chr 18
allele count: 2
allele frequency: 1.662952738883161e-5
allele num: 120268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11129C>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17618C>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.3G>T
  hgvsp: ENSP00000331302.4:p.Met1?
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34747C>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11195C>A
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16621
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4519
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7355
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23577
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2903
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7755
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10464
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5036
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

18-44561639-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561639
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561639
    reference: chr 18
allele count: 36
allele frequency: 2.995207667731629e-4
allele num: 120192
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11123A>G
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17612A>G
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.-4T>C
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11189A>G
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34753A>G
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7352
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 4.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 4112
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2902
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23409
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7727
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3675
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1942
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

18-44561640-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561640
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561640
    reference: chr 18
allele count: 1
allele frequency: 8.320436656515735e-6
allele num: 120186
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17611C>G
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.-5G>C
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11122C>G
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11188C>G
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34754C>G
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16564
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4112
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2903
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3677
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23428
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1945
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

18-44561643-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561643
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561643
    reference: chr 18
allele count: 1
allele frequency: 8.325978718798394e-6
allele num: 120106
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11185G>C
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17608G>C
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.-8C>G
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11119G>C
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34757G>C
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16508
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2902
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23264
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5009
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3664
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10458
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

18-44561645-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561645
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561645
    reference: chr 18
allele count: 1
allele frequency: 8.332083520805212e-6
allele num: 120018
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.-10C>T
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11183G>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34759G>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17606G>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11117G>A
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16384
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7632
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22989
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1943
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2902
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4108
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5008
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

18-44561649-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561649
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561649
    reference: chr 18
allele count: 1
allele frequency: 8.337641114575865e-6
allele num: 119938
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.-14A>G
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34763T>C
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11113T>C
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17602T>C
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11179T>C
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11780
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5000
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4109
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1942
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2902
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7580
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum

18-44561653-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561653
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561653
    reference: chr 18
allele count: 1
allele frequency: 8.343345347750633e-6
allele num: 119856
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34767G>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17598G>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.-18C>T
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11175G>A
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11109G>A
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12282
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11627
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4510
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22219
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2900
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10454
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7550
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

18-44561655-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561655
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561655
    reference: chr 18
allele count: 1
allele frequency: 8.350591221858508e-6
allele num: 119752
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17596C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11107C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.-20G>A
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11173C>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34769C>T
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7308
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4510
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2900
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1942
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4107
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21805
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

18-44561659-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44561659
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44561659
    reference: chr 18
allele count: 2
allele frequency: 1.67372420372571e-5
allele num: 119494
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000466674
  ensembl transcript: ENST00000585469
  gene symbol: KATNAL2
  hgvsc: ENST00000585469.1:c.-72-11103G>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000467610
  ensembl transcript: ENST00000592005
  gene symbol: KATNAL2
  hgvsc: ENST00000592005.1:c.51+34773G>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000245121
  ensembl transcript: ENST00000245121
  gene symbol: KATNAL2
  hgvsc: ENST00000245121.5:c.-94-17592G>T
  variant of: http://identifiers.org/hgnc/25387
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000206181
  ensembl protein: ENSP00000331302
  ensembl transcript: ENST00000332567
  gene symbol: TCEB3B
  hgvsc: ENST00000332567.4:c.-24C>A
  variant of: http://identifiers.org/hgnc/30771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167216
  ensembl protein: ENSP00000348478
  ensembl transcript: ENST00000356157
  gene symbol: KATNAL2
  hgvsc: ENST00000356157.7:c.52-11169G>T
  variant of: http://identifiers.org/hgnc/25387
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7306
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2899
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4098
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 39
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1115
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8839
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36428
bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.599816007359706e-4
allele num: 6522
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9816
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.364008365917978e-4
allele num: 65982
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.389e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.039478e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.06e1

VQSLOD
type: SiteQuality
SIO_000300: -2.487e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.65e-1

GenotypeQuality
all individuals: 97
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2311
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

East Asian
type: Population
allele count: 8
allele frequency: 9.261403102570039e-4
allele num: 8638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9810
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516070345664039e-5
allele num: 65960
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.08e-1

MQ
type: SiteQuality
SIO_000300: 5.235e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.46e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.058e0

MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

FS
type: SiteQuality
SIO_000300: 5.47e-1

DP
type: SiteQuality
SIO_000300: 2.036911e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.926e0

QD
type: SiteQuality
SIO_000300: 1.092e1

GenotypeQuality
all individuals: 92
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1105
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2311
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8827
bin: 6.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.073858114674441e-5
allele num: 16464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65960
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9810
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.926e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.46e-1

QD
type: SiteQuality
SIO_000300: 1.092e1

MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

DP
type: SiteQuality
SIO_000300: 2.036911e6

MQ
type: SiteQuality
SIO_000300: 5.235e1

VQSLOD
type: SiteQuality
SIO_000300: -1.058e0

GenotypeQuality
all individuals: 64
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1872
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8750
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1090
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6416
bin: 9.75e1
variant carriers: 3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9762
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520265134239411e-5
allele num: 65778
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.215509906405737e-4
allele num: 16454
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.131e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.46e-1

MQ
type: SiteQuality
SIO_000300: 5.136e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.93e-1

DP
type: SiteQuality
SIO_000300: 2.028733e6

FS
type: SiteQuality
SIO_000300: 8.58e-1

QD
type: SiteQuality
SIO_000300: 1.209e1

GenotypeQuality
all individuals: 415
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6409
bin: 9.75e1
variant carriers: 41

GenotypeQuality
all individuals: 2098
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65682
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

South Asian
type: Population
allele count: 42
allele frequency: 2.554744525547445e-3
allele num: 16440
num of homozygotes: 1

DP
type: SiteQuality
SIO_000300: 2.02518e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e-1

FS
type: SiteQuality
SIO_000300: 5.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

MQ
type: SiteQuality
SIO_000300: 4.743e1

VQSLOD
type: SiteQuality
SIO_000300: -1.528e0

MQRankSum
type: SiteQuality
SIO_000300: -3.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.469e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

QD
type: SiteQuality
SIO_000300: 1.191e1

GenotypeQuality
all individuals: 8443
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
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GenotypeQuality
all individuals: 1043
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 9
allele frequency: 9.336099585062241e-4
allele num: 9640
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 2.598196545926945e-4
allele num: 65430
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.008294e6

VQSLOD
type: SiteQuality
SIO_000300: -4.802e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.366e0

MQRankSum
type: SiteQuality
SIO_000300: 2.73e-1

FS
type: SiteQuality
SIO_000300: 2.505e0

QD
type: SiteQuality
SIO_000300: 1.254e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.72e-1

MQ
type: SiteQuality
SIO_000300: 4.975e1

GenotypeQuality
all individuals: 496
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2017
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 409
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variant carriers: 0

GenotypeQuality
all individuals: 2167
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65258
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.093845216331505e-5
allele num: 16410
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.571e0

DP
type: SiteQuality
SIO_000300: 1.996003e6

QD
type: SiteQuality
SIO_000300: 1.291e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

MQ
type: SiteQuality
SIO_000300: 4.846e1

GenotypeQuality
all individuals: 3222
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1012
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 495
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variant carriers: 0

GenotypeQuality
all individuals: 33805
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535626535626536e-5
allele num: 65120
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.132e0

FS
type: SiteQuality
SIO_000300: 6.793e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-1

QD
type: SiteQuality
SIO_000300: 1.435e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.904e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.067e0

DP
type: SiteQuality
SIO_000300: 1.985915e6

MQ
type: SiteQuality
SIO_000300: 5.135e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e-1

GenotypeQuality
all individuals: 31150
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6368
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.062022090059473e-4
allele num: 9416
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11322
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.59e-1

MQ
type: SiteQuality
SIO_000300: 5.297e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

VQSLOD
type: SiteQuality
SIO_000300: -1.192e0

QD
type: SiteQuality
SIO_000300: 1.526e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

DP
type: SiteQuality
SIO_000300: 1.941947e6

FS
type: SiteQuality
SIO_000300: 9.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.59e-1

GenotypeQuality
all individuals: 504
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1902
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64534
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11304
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6424
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.064282673478076e-4
allele num: 9396
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

DP
type: SiteQuality
SIO_000300: 1.93445e6

FS
type: SiteQuality
SIO_000300: 1.052e0

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e0

VQSLOD
type: SiteQuality
SIO_000300: -1.694e0

MQ
type: SiteQuality
SIO_000300: 5.179e1

QD
type: SiteQuality
SIO_000300: 1.28e1

GenotypeQuality
all individuals: 1408
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7484
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variant carriers: 0

GenotypeQuality
all individuals: 308
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variant carriers: 0

GenotypeQuality
all individuals: 104
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GenotypeQuality
all individuals: 393
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.214461050865363e-5
allele num: 64366
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11286
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6414
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.121449559255632e-5
allele num: 16336
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

QD
type: SiteQuality
SIO_000300: 1.284e1

VQSLOD
type: SiteQuality
SIO_000300: -7.284e-1

MQ
type: SiteQuality
SIO_000300: 4.741e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.3e-2

DP
type: SiteQuality
SIO_000300: 1.916614e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 475
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variant carriers: 0

GenotypeQuality
all individuals: 1818
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11274
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9346
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16318
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64272
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.360160490913382e-4
allele num: 8474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6396
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.818e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.139e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

QD
type: SiteQuality
SIO_000300: 1.006e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.79e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.993e0

MQ
type: SiteQuality
SIO_000300: 4.724e1

MQRankSum
type: SiteQuality
SIO_000300: 5.02e-1

DP
type: SiteQuality
SIO_000300: 1.898324e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.72e-1

GenotypeQuality
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bin: 2.75e1
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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bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6398
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8464
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64114
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16312
num of homozygotes: 0

Latino
type: Population
allele count: 71
allele frequency: 6.316725978647687e-3
allele num: 11240
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9316
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.883811e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

MQ
type: SiteQuality
SIO_000300: 4.783e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.17e-1

QD
type: SiteQuality
SIO_000300: 1.338e1

MQRankSum
type: SiteQuality
SIO_000300: 1.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.323e0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 931
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.130456105934282e-5
allele num: 16312
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 2.1468441391155e-4
allele num: 9316
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8464
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64114
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

QD
type: SiteQuality
SIO_000300: 1.338e1

MQRankSum
type: SiteQuality
SIO_000300: 1.49e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.323e0

MQ
type: SiteQuality
SIO_000300: 4.783e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

DP
type: SiteQuality
SIO_000300: 1.883811e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 28330
bin: 6.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11220
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6394
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64056
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.182312603452353e-4
allele num: 8458
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9292
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16294
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

VQSLOD
type: SiteQuality
SIO_000300: -1.646e0

QD
type: SiteQuality
SIO_000300: 9.68e0

FS
type: SiteQuality
SIO_000300: 1.704e0

MQRankSum
type: SiteQuality
SIO_000300: 1.63e0

DP
type: SiteQuality
SIO_000300: 1.880873e6

MQ
type: SiteQuality
SIO_000300: 5.304e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 88

GenotypeQuality
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GenotypeQuality
all individuals: 27590
bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8444
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63984
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11206
num of homozygotes: 0

South Asian
type: Population
allele count: 87
allele frequency: 5.338078291814947e-3
allele num: 16298
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.075500107550011e-4
allele num: 9298
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.2e-2

DP
type: SiteQuality
SIO_000300: 1.862283e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.69e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.391e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.025e0

QD
type: SiteQuality
SIO_000300: 2.97e0

MQ
type: SiteQuality
SIO_000300: 4.257e1

GenotypeQuality
all individuals: 127
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2159
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1630
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9248
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.144456323501666e-5
allele num: 63604
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6344
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11168
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.208866261020738e-5
allele num: 16106
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.305e0

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-1

FS
type: SiteQuality
SIO_000300: 5.195e0

VQSLOD
type: SiteQuality
SIO_000300: -1.782e0

MQ
type: SiteQuality
SIO_000300: 4.711e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

DP
type: SiteQuality
SIO_000300: 1.803426e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

QD
type: SiteQuality
SIO_000300: 1.306e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8242
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1263
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variant carriers: 0

GenotypeQuality
all individuals: 5758
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61838
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10906
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6230
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8950
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16132
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8096
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.63118e6

VQSLOD
type: SiteQuality
SIO_000300: -1.912e0

QD
type: SiteQuality
SIO_000300: 8.699999999999999e0

MQ
type: SiteQuality
SIO_000300: 3.897e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

FS
type: SiteQuality
SIO_000300: 3.332e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.56e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 794
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4061
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6184
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8882
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16094
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10822
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.627127469165935e-5
allele num: 61458
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8034
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.837e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

MQ
type: SiteQuality
SIO_000300: 4.563e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.555e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.55e-1

DP
type: SiteQuality
SIO_000300: 1.616707e6

QD
type: SiteQuality
SIO_000300: 1.345e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

GenotypeQuality
all individuals: 452
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1266
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1180
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3250
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6188
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8910
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8018
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.626651050816579e-5
allele num: 61476
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10856
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16110
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.82e-1

MQ
type: SiteQuality
SIO_000300: 4.529e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.543e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

FS
type: SiteQuality
SIO_000300: 1.714e0

DP
type: SiteQuality
SIO_000300: 1.611131e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.041e0

QD
type: SiteQuality
SIO_000300: 1.448e1

GenotypeQuality
all individuals: 3379
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12713
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variant carriers: 0

GenotypeQuality
all individuals: 452
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8860
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.635858007524947e-5
allele num: 61130
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10798
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7946
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16092
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6160
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.575e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 1.735e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 3.592e1

DP
type: SiteQuality
SIO_000300: 1.602332e6

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

FS
type: SiteQuality
SIO_000300: 1.617e0

GenotypeQuality
all individuals: 3322
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4141
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variant carriers: 0

GenotypeQuality
all individuals: 456
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GenotypeQuality
all individuals: 1285
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GenotypeQuality
all individuals: 13957
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8754
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6146
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.95785820525533e-5
allele num: 60510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10648
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16058
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7842
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.11e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.751e0

QD
type: SiteQuality
SIO_000300: 1.169e1

FS
type: SiteQuality
SIO_000300: 3.117e0

MQRankSum
type: SiteQuality
SIO_000300: -1.194e0

DP
type: SiteQuality
SIO_000300: 1.580858e6

MQ
type: SiteQuality
SIO_000300: 3.556e1

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
all individuals: 3388
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8702
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16020
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6130
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.587991718426501e-4
allele num: 7728
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60194
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.526e0

FS
type: SiteQuality
SIO_000300: 2.145e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 8.68e0

MQ
type: SiteQuality
SIO_000300: 3.113e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.49e-1

DP
type: SiteQuality
SIO_000300: 1.582023e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.31e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16028
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6104
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7758
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.298850574712644e-4
allele num: 8700
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.662289304830613e-5
allele num: 60158
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.49e-1

QD
type: SiteQuality
SIO_000300: 9.359999999999999e0

FS
type: SiteQuality
SIO_000300: 5.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.67e-1

MQ
type: SiteQuality
SIO_000300: 3.711e1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -3.126e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.1e-1

DP
type: SiteQuality
SIO_000300: 1.586319e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6104
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7758
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10572
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.247816321437484e-4
allele num: 16028
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8700
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60158
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.67e-1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 9.359999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -4.49e-1

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 3.711e1

DP
type: SiteQuality
SIO_000300: 1.586319e6

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7790
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 60374
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South Asian
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Latino
type: Population
allele count: 1
allele frequency: 9.396729937981582e-5
allele num: 10642
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6136
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8750
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.17e0

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 3.89e1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.465e0

DP
type: SiteQuality
SIO_000300: 1.594934e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3830
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GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10602
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6146
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.140250855188141e-4
allele num: 8770
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South Asian
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allele frequency: 0.0e0
allele num: 16044
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 60334
num of homozygotes: 0

East Asian
type: Population
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 4.302e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.19e0

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.388e0

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.605207e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.41e-1

GenotypeQuality
all individuals: 6339
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4093
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 945
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19715
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.651309488424321e-5
allele num: 60558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8808
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16084
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7790
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10660
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6162
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.75e0

QD
type: SiteQuality
SIO_000300: 9.99e0

MQRankSum
type: SiteQuality
SIO_000300: 4.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.857e0

MQ
type: SiteQuality
SIO_000300: 4.542e1

FS
type: SiteQuality
SIO_000300: 7.949e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e-2

DP
type: SiteQuality
SIO_000300: 1.62014e6

GenotypeQuality
all individuals: 919
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6346
bin: 9.75e1
variant carriers: 2

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7786
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16076
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8806
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.8758206715438e-4
allele num: 10662
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6160
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.16e-1

FS
type: SiteQuality
SIO_000300: 8.58e-1

MQ
type: SiteQuality
SIO_000300: 4.28e1

VQSLOD
type: SiteQuality
SIO_000300: -3.007e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.09e-1

QD
type: SiteQuality
SIO_000300: 1.262e1

MQRankSum
type: SiteQuality
SIO_000300: 2.41e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

DP
type: SiteQuality
SIO_000300: 1.635762e6

GenotypeQuality
all individuals: 558
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4236
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1209
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3056
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4203
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8806
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16076
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.284356537374775e-4
allele num: 7786
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6160
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60600
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10662
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.262e1

VQSLOD
type: SiteQuality
SIO_000300: -3.007e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

MQ
type: SiteQuality
SIO_000300: 4.28e1

FS
type: SiteQuality
SIO_000300: 8.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.16e-1

DP
type: SiteQuality
SIO_000300: 1.635762e6

MQRankSum
type: SiteQuality
SIO_000300: 2.41e0

GenotypeQuality
all individuals: 800
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4358
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1772
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 6585
bin: 9.75e1
variant carriers: 246

European (Non-Finnish)
type: Population
allele count: 200
allele frequency: 3.288608260983952e-3
allele num: 60816
num of homozygotes: 1

Other
type: Population
allele count: 1
allele frequency: 1.179245283018868e-3
allele num: 848
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 42
allele frequency: 6.811547194291274e-3
allele num: 6166
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.486943546381497e-4
allele num: 16084
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7808
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.696599661844824e-4
allele num: 10646
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.130965844831486e-4
allele num: 8842
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 1.644951e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.259e0

QD
type: SiteQuality
SIO_000300: 1.426e1

MQ
type: SiteQuality
SIO_000300: 4.432e1

GenotypeQuality
all individuals: 913
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4802
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6386
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7850
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.12410071942446e-4
allele num: 8896
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10758
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6222
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61170
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16102
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.44e-1

FS
type: SiteQuality
SIO_000300: 1.431e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.651e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.89e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.37e-1

QD
type: SiteQuality
SIO_000300: 1.284e1

DP
type: SiteQuality
SIO_000300: 1.674217e6

MQ
type: SiteQuality
SIO_000300: 3.943e1

GenotypeQuality
all individuals: 1971
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1692
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1961
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6081
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5249
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.622270529833555e-5
allele num: 61642
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10802
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6256
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9016
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16138
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -4.756e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.343e0

MQ
type: SiteQuality
SIO_000300: 2.954e1

QD
type: SiteQuality
SIO_000300: 8.609999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -1.661e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

DP
type: SiteQuality
SIO_000300: 1.708293e6

GenotypeQuality
all individuals: 2013
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5358
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10822
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.238850346878097e-4
allele num: 16144
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9018
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61786
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7910
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6276
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.374e0

MQ
type: SiteQuality
SIO_000300: 4.112e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.089e0

FS
type: SiteQuality
SIO_000300: 5.966e0

DP
type: SiteQuality
SIO_000300: 1.717613e6

MQRankSum
type: SiteQuality
SIO_000300: 4.13e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.862e0

QD
type: SiteQuality
SIO_000300: 1.371e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

GenotypeQuality
all individuals: 688
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28956
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5724
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7958
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6318
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62168
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9086
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.186110600771634e-5
allele num: 10886
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.746651e6

MQRankSum
type: SiteQuality
SIO_000300: 2.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

FS
type: SiteQuality
SIO_000300: 5.18e-1

QD
type: SiteQuality
SIO_000300: 1.473e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.21e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.098e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQ
type: SiteQuality
SIO_000300: 4.842e1

GenotypeQuality
all individuals: 358
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6459
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1658
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11024
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6372
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8084
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.502993442934525e-5
allele num: 63138
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16244
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

FS
type: SiteQuality
SIO_000300: 6.53e-1

DP
type: SiteQuality
SIO_000300: 1.781695e6

QD
type: SiteQuality
SIO_000300: 1.226e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.95e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.103e0

MQ
type: SiteQuality
SIO_000300: 5.144e1

GenotypeQuality
all individuals: 388
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6476
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 659
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30615
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9350
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8164
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6398
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.151574803149606e-5
allele num: 16256
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63792
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11112
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQ
type: SiteQuality
SIO_000300: 4.587e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.47e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.602e0

DP
type: SiteQuality
SIO_000300: 1.809876e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

QD
type: SiteQuality
SIO_000300: 1.384e1

MQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

GenotypeQuality
all individuals: 823
bin: 2.25e1
variant carriers: 122

GenotypeQuality
all individuals: 1239
bin: 9.25e1
variant carriers: 1023

GenotypeQuality
all individuals: 1215
bin: 7.25e1
variant carriers: 557

GenotypeQuality
all individuals: 8927
bin: 6.25e1
variant carriers: 703

GenotypeQuality
all individuals: 1719
bin: 7.75e1
variant carriers: 946

European (Non-Finnish)
type: Population
allele count: 29950
allele frequency: 4.58413689656228e-1
allele num: 65334
num of homozygotes: 6771

African
type: Population
allele count: 4359
allele frequency: 4.491962077493817e-1
allele num: 9704
num of homozygotes: 955

Other
type: Population
allele count: 457
allele frequency: 5.089086859688196e-1
allele num: 898
num of homozygotes: 118

Latino
type: Population
allele count: 7612
allele frequency: 6.729137199434229e-1
allele num: 11312
num of homozygotes: 2562

East Asian
type: Population
allele count: 5491
allele frequency: 6.50746622422375e-1
allele num: 8438
num of homozygotes: 1766

South Asian
type: Population
allele count: 9423
allele frequency: 5.735240413877054e-1
allele num: 16430
num of homozygotes: 2743

European (Finnish)
type: Population
allele count: 3030
allele frequency: 4.66728280961183e-1
allele num: 6492
num of homozygotes: 700

VQSLOD
type: SiteQuality
SIO_000300: -2.153e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.18e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.775e0

FS
type: SiteQuality
SIO_000300: 3.55e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.774e0

QD
type: SiteQuality
SIO_000300: 1.854e1

MQ
type: SiteQuality
SIO_000300: 4.128e1

DP
type: SiteQuality
SIO_000300: 2.760844e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.08e-1

GenotypeQuality
all individuals: 1056
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10916
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 103
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5013
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19287
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.024170421958214e-4
allele num: 9764
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51758885482745e-5
allele num: 65894
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

DP
type: SiteQuality
SIO_000300: 1.931538e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.5e-2

FS
type: SiteQuality
SIO_000300: 6.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.5e-2

MQ
type: SiteQuality
SIO_000300: 4.751e1

QD
type: SiteQuality
SIO_000300: 1.136e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.61e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.066e0

GenotypeQuality
all individuals: 455
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1959
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2892
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10916
bin: 9.75e1
variant carriers: 3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9806
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.027367401307823e-5
allele num: 66064
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.071645415907711e-5
allele num: 16470
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -8.792999999999999e0

FS
type: SiteQuality
SIO_000300: 3.7041e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.52e-1

MQ
type: SiteQuality
SIO_000300: 4.305e1

DP
type: SiteQuality
SIO_000300: 1.950753e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

QD
type: SiteQuality
SIO_000300: 1.687e1

MQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.5e-2

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9816
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511167528032158e-5
allele num: 66174
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: 16476
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

FS
type: SiteQuality
SIO_000300: 1.9089e1

QD
type: SiteQuality
SIO_000300: 1.336e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.251e0

DP
type: SiteQuality
SIO_000300: 1.95555e6

MQRankSum
type: SiteQuality
SIO_000300: -6.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.793e0

VQSLOD
type: SiteQuality
SIO_000300: -4.911e0

MQ
type: SiteQuality
SIO_000300: 4.376e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2909
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9856
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.661008141347653e-5
allele num: 11546
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66340
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.19e-1

QD
type: SiteQuality
SIO_000300: 7.09e0

DP
type: SiteQuality
SIO_000300: 1.965593e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 4.421e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.202e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.077e0

GenotypeQuality
all individuals: 108
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 542
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variant carriers: 0

GenotypeQuality
all individuals: 23275
bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.471418653089562e-4
allele num: 8642
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66336
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.185e1

DP
type: SiteQuality
SIO_000300: 1.966122e6

QD
type: SiteQuality
SIO_000300: 1.352e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.174e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.417e0

GenotypeQuality
all individuals: 69
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5057
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 532
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variant carriers: 0

GenotypeQuality
all individuals: 2912
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507022725902707e-5
allele num: 66356
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.486000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.919e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.447e0

QD
type: SiteQuality
SIO_000300: 9.5e0

MQRankSum
type: SiteQuality
SIO_000300: -9.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.47e0

DP
type: SiteQuality
SIO_000300: 1.966844e6

VQSLOD
type: SiteQuality
SIO_000300: -4.964e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQ
type: SiteQuality
SIO_000300: 4.785e1

GenotypeQuality
all individuals: 78
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
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variant carriers: 0

GenotypeQuality
all individuals: 23344
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variant carriers: 0

GenotypeQuality
all individuals: 3666
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variant carriers: 0

GenotypeQuality
all individuals: 4122
bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9876
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66362
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.967689e6

FS
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
SIO_000300: -1.892e0

MQRankSum
type: SiteQuality
SIO_000300: 3.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e0

QD
type: SiteQuality
SIO_000300: 1.291e1

MQ
type: SiteQuality
SIO_000300: 4.484e1

GenotypeQuality
all individuals: 5056
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2917
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variant carriers: 0

GenotypeQuality
all individuals: 4118
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506069459923492e-5
allele num: 66398
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.031e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-1

MQ
type: SiteQuality
SIO_000300: 5.473e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.845e0

DP
type: SiteQuality
SIO_000300: 1.969531e6

FS
type: SiteQuality
SIO_000300: 3.004e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.95e-1

QD
type: SiteQuality
SIO_000300: 1.198e1

GenotypeQuality
all individuals: 7527
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variant carriers: 0

GenotypeQuality
all individuals: 5057
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 453
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505797319680771e-5
allele num: 66410
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9886
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.87e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.151e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

QD
type: SiteQuality
SIO_000300: 6.72e0

MQ
type: SiteQuality
SIO_000300: 5.391e1

DP
type: SiteQuality
SIO_000300: 1.970401e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.05e-1

GenotypeQuality
all individuals: 7525
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variant carriers: 0

GenotypeQuality
all individuals: 1980
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GenotypeQuality
all individuals: 2917
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variant carriers: 0

GenotypeQuality
all individuals: 434
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variant carriers: 0

GenotypeQuality
all individuals: 5065
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66422
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
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Latino
type: Population
allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-2

FS
type: SiteQuality
SIO_000300: 1.234e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 4.897e1

DP
type: SiteQuality
SIO_000300: 1.971396e6

MQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.97e-1

QD
type: SiteQuality
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GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 34
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GenotypeQuality
all individuals: 5064
bin: 7.75e1
variant carriers: 0

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

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

African
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allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505162708088744e-5
allele num: 66438
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 4.624e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 5.3e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 5.74e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 23618
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GenotypeQuality
all individuals: 480
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GenotypeQuality
all individuals: 5072
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
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
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9938
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European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.80635838150289e-4
allele num: 66432
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.84e-1

FS
type: SiteQuality
SIO_000300: 5.107e0

VQSLOD
type: SiteQuality
SIO_000300: -1.283e0

MQ
type: SiteQuality
SIO_000300: 5.263e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.77e-1

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.972244e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

GenotypeQuality
all individuals: 5072
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23644
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10926
bin: 9.75e1
variant carriers: 1

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: 902
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
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: 8650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9940
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.559e1

QD
type: SiteQuality
SIO_000300: 1.786e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-1

FS
type: SiteQuality
SIO_000300: 6.56e0

MQRankSum
type: SiteQuality
SIO_000300: 2.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

DP
type: SiteQuality
SIO_000300: 1.971769e6

VQSLOD
type: SiteQuality
SIO_000300: -9.65e-1

GenotypeQuality
all individuals: 3673
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4124
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1977
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 4
allele frequency: 4.024144869215292e-4
allele num: 9940
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.023189278723084e-5
allele num: 66410
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.971947e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -8.436e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e-1

QD
type: SiteQuality
SIO_000300: 8.98e0

MQRankSum
type: SiteQuality
SIO_000300: -5.343e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.4e-2

MQ
type: SiteQuality
SIO_000300: 5.028e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e0

FS
type: SiteQuality
SIO_000300: 3.0501e1

GenotypeQuality
all individuals: 2921
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4123
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 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: 902
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9942
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66420
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e-1

FS
type: SiteQuality
SIO_000300: 7.81e-1

MQ
type: SiteQuality
SIO_000300: 5.522e1

DP
type: SiteQuality
SIO_000300: 1.971774e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.632e0

MQRankSum
type: SiteQuality
SIO_000300: 3.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 8.130000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -1.027e0

GenotypeQuality
all individuals: 58
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10940
bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 7506
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.506341698550899e-4
allele num: 66386
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.312138728323699e-4
allele num: 8650
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.021756647864625e-4
allele num: 9928
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 4.996e1

QD
type: SiteQuality
SIO_000300: 8.93e0

FS
type: SiteQuality
SIO_000300: 1.4327e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.72e-1

DP
type: SiteQuality
SIO_000300: 1.971445e6

VQSLOD
type: SiteQuality
SIO_000300: -4.77e0

MQRankSum
type: SiteQuality
SIO_000300: -4.886e0

GenotypeQuality
all individuals: 50
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1979
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2920
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.027000964320154e-5
allele num: 66368
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9914
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 8.954000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

DP
type: SiteQuality
SIO_000300: 1.970672e6

QD
type: SiteQuality
SIO_000300: 1.089e1

VQSLOD
type: SiteQuality
SIO_000300: -7.318e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e-1

MQ
type: SiteQuality
SIO_000300: 5.352e1

GenotypeQuality
all individuals: 10940
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 82
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23466
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4122
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1979
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9914
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506750241080039e-5
allele num: 66368
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.318e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.88e-1

QD
type: SiteQuality
SIO_000300: 1.089e1

FS
type: SiteQuality
SIO_000300: 8.954000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

MQ
type: SiteQuality
SIO_000300: 5.352e1

DP
type: SiteQuality
SIO_000300: 1.970672e6

GenotypeQuality
all individuals: 81
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3670
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7500
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1979
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9906
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66362
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -9.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.16e-1

DP
type: SiteQuality
SIO_000300: 1.970579e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e0

QD
type: SiteQuality
SIO_000300: 1.568e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.55e-1

MQ
type: SiteQuality
SIO_000300: 5.687e1

GenotypeQuality
all individuals: 1765
bin: 8.75e1
variant carriers: 5

GenotypeQuality
all individuals: 470
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3710
bin: 8.25e1
variant carriers: 9

GenotypeQuality
all individuals: 55
bin: 4.75e1
variant carriers: 4

GenotypeQuality
all individuals: 6697
bin: 6.75e1
variant carriers: 6

South Asian
type: Population
allele count: 191
allele frequency: 1.156734496124031e-2
allele num: 16512
num of homozygotes: 3

African
type: Population
allele count: 594
allele frequency: 5.981873111782477e-2
allele num: 9930
num of homozygotes: 17

East Asian
type: Population
allele count: 64
allele frequency: 7.400555041628122e-3
allele num: 8648
num of homozygotes: 1

Other
type: Population
allele count: 53
allele frequency: 5.888888888888889e-2
allele num: 900
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 519
allele frequency: 7.849364791288566e-2
allele num: 6612
num of homozygotes: 26

Latino
type: Population
allele count: 505
allele frequency: 4.363982025578984e-2
allele num: 11572
num of homozygotes: 7

European (Non-Finnish)
type: Population
allele count: 4987
allele frequency: 7.518241572694928e-2
allele num: 66332
num of homozygotes: 186

MQ
type: SiteQuality
SIO_000300: 5.497e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.75e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.01e-1

FS
type: SiteQuality
SIO_000300: 2.612e0

VQSLOD
type: SiteQuality
SIO_000300: 3.26e-1

QD
type: SiteQuality
SIO_000300: 1.206e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.19e-1

DP
type: SiteQuality
SIO_000300: 2.217621e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.81e-1

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6697
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3269
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3710
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.030271965265633e-5
allele num: 66332
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: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9930
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 8
allele frequency: 1.209921355111918e-3
allele num: 6612
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.222222222222222e-3
allele num: 900
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.497e1

FS
type: SiteQuality
SIO_000300: 2.612e0

DP
type: SiteQuality
SIO_000300: 2.217621e6

MQRankSum
type: SiteQuality
SIO_000300: 7.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.6e-1

QD
type: SiteQuality
SIO_000300: 1.206e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.75e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.81e-1

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

GenotypeQuality
all individuals: 497
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15499
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2806
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66312
num of homozygotes: 0

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

African
type: Population
allele count: 3
allele frequency: 3.026634382566586e-4
allele num: 9912
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.246e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQRankSum
type: SiteQuality
SIO_000300: -1.64e-1

DP
type: SiteQuality
SIO_000300: 2.172752e6

FS
type: SiteQuality
SIO_000300: 3.355e0

MQ
type: SiteQuality
SIO_000300: 5.403e1

VQSLOD
type: SiteQuality
SIO_000300: -3.659e-1

QD
type: SiteQuality
SIO_000300: 1.129e1

GenotypeQuality
all individuals: 15498
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 3807
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6803
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1827
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2806
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

South Asian
type: Population
allele count: 8
allele frequency: 4.844961240310077e-4
allele num: 16512
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66320
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9912
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.172898e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.358e0

MQRankSum
type: SiteQuality
SIO_000300: 1.0e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.152e0

QD
type: SiteQuality
SIO_000300: 1.166e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 1.288e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 5.188e1

GenotypeQuality
all individuals: 80
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1825
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4609
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.033000512805044e-5
allele num: 66302
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9888
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.526e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.844e0

MQ
type: SiteQuality
SIO_000300: 5.27e1

FS
type: SiteQuality
SIO_000300: 5.758e0

QD
type: SiteQuality
SIO_000300: 1.097e1

DP
type: SiteQuality
SIO_000300: 2.172592e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.88e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.15e-1

GenotypeQuality
all individuals: 4505
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1770
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3705
bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9878
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508614187007815e-5
allele num: 66286
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.025e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.2e-1

MQ
type: SiteQuality
SIO_000300: 5.481e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.86e-1

QD
type: SiteQuality
SIO_000300: 1.146e1

DP
type: SiteQuality
SIO_000300: 2.175189e6

VQSLOD
type: SiteQuality
SIO_000300: 3.19e-1

GenotypeQuality
all individuals: 80
bin: 3.25e1
variant carriers: 4

GenotypeQuality
all individuals: 20798
bin: 6.25e1
variant carriers: 9

GenotypeQuality
all individuals: 56
bin: 5.75e1
variant carriers: 8

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 5

GenotypeQuality
all individuals: 6685
bin: 6.75e1
variant carriers: 4

Other
type: Population
allele count: 55
allele frequency: 6.124721603563475e-2
allele num: 898
num of homozygotes: 3

European (Finnish)
type: Population
allele count: 526
allele frequency: 7.955232909860858e-2
allele num: 6612
num of homozygotes: 26

African
type: Population
allele count: 590
allele frequency: 5.972869001822231e-2
allele num: 9878
num of homozygotes: 17

East Asian
type: Population
allele count: 64
allele frequency: 7.403979639055993e-3
allele num: 8644
num of homozygotes: 1

South Asian
type: Population
allele count: 191
allele frequency: 1.156874621441551e-2
allele num: 16510
num of homozygotes: 3

Latino
type: Population
allele count: 504
allele frequency: 4.359107420861442e-2
allele num: 11562
num of homozygotes: 7

European (Non-Finnish)
type: Population
allele count: 4987
allele frequency: 7.523458950607971e-2
allele num: 66286
num of homozygotes: 186

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.69e-1

DP
type: SiteQuality
SIO_000300: 2.175189e6

FS
type: SiteQuality
SIO_000300: 2.025e0

MQ
type: SiteQuality
SIO_000300: 5.481e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.86e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.86e0

VQSLOD
type: SiteQuality
SIO_000300: 3.19e-1

QD
type: SiteQuality
SIO_000300: 1.146e1

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

GenotypeQuality
all individuals: 23551
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.020509257860875e-5
allele num: 66214
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 2.269e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.859e0

VQSLOD
type: SiteQuality
SIO_000300: -1.587e0

MQRankSum
type: SiteQuality
SIO_000300: 3.52e-1

MQ
type: SiteQuality
SIO_000300: 4.821e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.2e-2

QD
type: SiteQuality
SIO_000300: 1.103e1

DP
type: SiteQuality
SIO_000300: 1.952656e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

GenotypeQuality
all individuals: 4117
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3687
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.313208420078649e-4
allele num: 8646
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66200
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9846
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

MQ
type: SiteQuality
SIO_000300: 5.481e1

VQSLOD
type: SiteQuality
SIO_000300: -1.367e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.372e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.41e-1

FS
type: SiteQuality
SIO_000300: 5.538e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 9.279999999999999e0

DP
type: SiteQuality
SIO_000300: 1.952548e6

GenotypeQuality
all individuals: 42
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5023
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10481
bin: 9.75e1
variant carriers: 36

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 5
allele frequency: 5.09268690160929e-4
allele num: 9818
num of homozygotes: 0

East Asian
type: Population
allele count: 10
allele frequency: 1.156871818602499e-3
allele num: 8644
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.024803387779795e-4
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 2.569606094501043e-4
allele num: 66158
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.369e-1

FS
type: SiteQuality
SIO_000300: 1.955e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e0

MQ
type: SiteQuality
SIO_000300: 5.268e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

QD
type: SiteQuality
SIO_000300: 1.164e1

DP
type: SiteQuality
SIO_000300: 1.95086e6

MQRankSum
type: SiteQuality
SIO_000300: -2.187e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.57e-1

GenotypeQuality
all individuals: 129
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5023
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10457
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7736
bin: 6.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9814
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66152
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.734e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.471e0

QD
type: SiteQuality
SIO_000300: 1.804e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.488e0

MQRankSum
type: SiteQuality
SIO_000300: 2.53e0

MQ
type: SiteQuality
SIO_000300: 5.664e1

DP
type: SiteQuality
SIO_000300: 1.94939e6

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4111
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7682
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512538947877908e-5
allele num: 66114
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.643e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.66e-1

FS
type: SiteQuality
SIO_000300: 1.524e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.182e0

QD
type: SiteQuality
SIO_000300: 1.138e1

DP
type: SiteQuality
SIO_000300: 1.946642e6

VQSLOD
type: SiteQuality
SIO_000300: -1.056e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.16e-1

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

GenotypeQuality
all individuals: 10457
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 123
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3657
bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9766
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66056
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.943405e6

MQ
type: SiteQuality
SIO_000300: 5.583e1

FS
type: SiteQuality
SIO_000300: 7.116e0

MQRankSum
type: SiteQuality
SIO_000300: 4.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.097e0

VQSLOD
type: SiteQuality
SIO_000300: -1.269e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.8e-1

QD
type: SiteQuality
SIO_000300: 1.381e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

GenotypeQuality
all individuals: 10455
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 22568
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3653
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66012
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.026904908605463e-4
allele num: 9738
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.421e0

MQRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.937683e6

FS
type: SiteQuality
SIO_000300: 1.846e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.768e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

QD
type: SiteQuality
SIO_000300: 1.515e1

MQ
type: SiteQuality
SIO_000300: 5.264e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.93e0

GenotypeQuality
all individuals: 3642
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1942
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4107
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 332
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variant carriers: 0

GenotypeQuality
all individuals: 4996
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9722
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516070345664039e-5
allele num: 65960
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.896e0

MQRankSum
type: SiteQuality
SIO_000300: 9.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.292e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.019e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e0

DP
type: SiteQuality
SIO_000300: 1.932087e6

QD
type: SiteQuality
SIO_000300: 3.349e1

GenotypeQuality
all individuals: 7517
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4991
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10451
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3637
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9680
num of homozygotes: 0

Latino
type: Population
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: 894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517174414370676e-5
allele num: 65912
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-2

MQ
type: SiteQuality
SIO_000300: 5.709e1

QD
type: SiteQuality
SIO_000300: 6.73e0

DP
type: SiteQuality
SIO_000300: 1.927462e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.019e0

VQSLOD
type: SiteQuality
SIO_000300: -1.181e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4