20-2443268-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443268
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443268
    reference: chr 20
allele count: 1
allele frequency: 8.554027236022719e-6
allele num: 116904
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.685+14G>C
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.685+14G>C
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.462G>C
  hgvsp: ENSP00000342305.6:p.Gln154His
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*596+14G>C
  variant of: http://identifiers.org/hgnc/11153
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4929
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4593
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2942
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18702
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2074
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6683
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3466
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15503
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln154His
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

20-2443273-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443273
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443273
    reference: chr 20
allele count: 1
allele frequency: 8.552710353911154e-6
allele num: 116922
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.457C>T
  hgvsp: ENST00000339610.6:c.457C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*596+9C>T
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.685+9C>T
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.685+9C>T
  variant of: http://identifiers.org/hgnc/11153
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4929
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4598
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15502
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18702
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2943
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2074
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu153Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: MQ

20-2443277-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443277
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443277
    reference: chr 20
allele count: 1
allele frequency: 8.552271483305966e-6
allele num: 116928
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.685+5G>A
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.453G>A
  hgvsp: ENST00000339610.6:c.453G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*596+5G>A
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.685+5G>A
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9007
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4929
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2944
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4168
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2074
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18700
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6677
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3466
  bin: 9.25e1
  variant carriers: 0
hgvs: c.685+5G>A
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

20-2443277-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443277
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443276
    reference: chr 20
allele count: 2
allele frequency: 1.710454296661193e-5
allele num: 116928
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.685+4delA
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.452delA
  hgvsp: ENSP00000342305.6:p.Lys151SerfsTer12
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*596+4delA
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.685+4delA
  variant of: http://identifiers.org/hgnc/11153
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9007
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4929
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6677
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2074
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2944
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15472
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4168
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys151SerfsTer12
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: CT
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

http://identifiers.org/exac.variant/20-2443280-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443280
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443280
    reference: chr 20
allele count: 1
allele frequency: 8.551832657738554e-6
allele num: 116934
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.685+2T>G
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.450T>G
  hgvsp: ENST00000339610.6:c.450T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.685+2T>G
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*596+2T>G
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9005
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4928
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6673
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2941
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4167
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15435
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3466
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
hgvs: c.685+2T>G
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/20-2443281-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443281
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443281
    reference: chr 20
allele count: 1
allele frequency: 8.552125203112974e-6
allele num: 116930
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.685+1G>T
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.685+1G>T
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*596+1G>T
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.449G>T
  hgvsp: ENSP00000342305.6:p.Gly150Val
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4927
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3199
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9005
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12554
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2941
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4166
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18693
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15407
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6669
  bin: 6.75e1
  variant carriers: 0
hgvs: c.685+1G>T
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

20-2443284-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443284
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443284
    reference: chr 20
allele count: 2
allele frequency: 1.710571330824495e-5
allele num: 116920
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*594G>A
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.446G>A
  hgvsp: ENSP00000342305.6:p.Arg149Gln
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.683G>A
  hgvsp: ENSP00000370746.2:p.Arg228Gln
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.683G>A
  hgvsp: ENSP00000412566.2:p.Arg228Gln
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4927
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8999
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6787
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2073
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15407
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6661
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3463
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2940
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg228Gln
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

20-2443285-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443285
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443285
    reference: chr 20
allele count: 1
allele frequency: 8.553295584788819e-6
allele num: 116914
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.445C>A
  hgvsp: ENST00000339610.6:c.445C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*593C>A
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.682C>A
  hgvsp: ENST00000381342.2:c.682C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.682C>A
  hgvsp: ENST00000438552.2:c.682C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8999
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12547
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4926
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12120
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6786
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3464
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2941
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4161
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18690
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1022
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2073
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg228Arg
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

20-2443294-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443294
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443294
    reference: chr 20
allele count: 1
allele frequency: 8.556076525548445e-6
allele num: 116876
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.673C>A
  hgvsp: ENSP00000370746.2:p.Pro225Thr
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*584C>A
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.436C>A
  hgvsp: ENSP00000342305.6:p.Pro146Thr
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.673C>A
  hgvsp: ENSP00000412566.2:p.Pro225Thr
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8980
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6780
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4923
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12062
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15311
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6606
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4156
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4572
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro225Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

20-2443295-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443295
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443295
    reference: chr 20
allele count: 1
allele frequency: 8.558712769599453e-6
allele num: 116840
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.672C>T
  hgvsp: ENST00000381342.2:c.672C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.672C>T
  hgvsp: ENST00000438552.2:c.672C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.435C>T
  hgvsp: ENST00000339610.6:c.435C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*583C>T
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8974
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6782
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4925
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3464
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15280
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2921
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2073
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4156
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6602
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro224Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

20-2443305-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443305
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443305
    reference: chr 20
allele count: 1
allele frequency: 8.593870851308846e-6
allele num: 116362
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.662G>A
  hgvsp: ENSP00000412566.2:p.Arg221Gln
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*573G>A
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.425G>A
  hgvsp: ENSP00000342305.6:p.Arg142Gln
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.662G>A
  hgvsp: ENSP00000370746.2:p.Arg221Gln
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6765
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4924
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1860
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18685
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 69
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14669
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2899
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4149
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4543
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6455
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg221Gln
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

20-2443313-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443313
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443313
    reference: chr 20
allele count: 6
allele frequency: 5.180899749589846e-5
allele num: 115810
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.654G>A
  hgvsp: ENST00000381342.2:c.654G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.417G>A
  hgvsp: ENST00000339610.6:c.417G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*565G>A
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.654G>A
  hgvsp: ENST00000438552.2:c.654G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8912
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4918
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11843
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2860
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4511
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2074
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4146
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro218Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

20-2443319-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443319
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443319
    reference: chr 20
allele count: 1
allele frequency: 8.654412019247412e-6
allele num: 115548
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.648C>T
  hgvsp: ENST00000438552.2:c.648C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*559C>T
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.411C>T
  hgvsp: ENST00000339610.6:c.411C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.648C>T
  hgvsp: ENST00000381342.2:c.648C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11667
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4919
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6755
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4501
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6284
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3454
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2990
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2075
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro216Pro
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

20-2443322-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443322
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443322
    reference: chr 20
allele count: 1
allele frequency: 8.683419878084785e-6
allele num: 115162
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.408G>A
  hgvsp: ENSP00000342305.6:p.Met136Ile
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.645G>A
  hgvsp: ENSP00000370746.2:p.Met215Ile
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*556G>A
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.645G>A
  hgvsp: ENSP00000412566.2:p.Met215Ile
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6757
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4921
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18672
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4489
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13488
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 216
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6221
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3258
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Met215Ile
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

20-2443330-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443330
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443330
    reference: chr 20
allele count: 2
allele frequency: 1.745596732242917e-5
allele num: 114574
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.637A>G
  hgvsp: ENSP00000412566.2:p.Met213Val
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.400A>G
  hgvsp: ENSP00000342305.6:p.Met134Val
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.637A>G
  hgvsp: ENSP00000370746.2:p.Met213Val
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*548A>G
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4919
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10155
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6753
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3452
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 545
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2809
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 405
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4130
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18671
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6081
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Met213Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP

20-2443349-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443349
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443349
    reference: chr 20
allele count: 1
allele frequency: 8.870438377064595e-6
allele num: 112734
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.618C>G
  hgvsp: ENST00000438552.2:c.618C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*529C>G
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.618C>G
  hgvsp: ENST00000381342.2:c.618C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.381C>G
  hgvsp: ENST00000339610.6:c.381C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6753
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4919
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5970
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genotype quality: GenotypeQuality
  all individuals: 4806
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2804
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 122
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2073
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11961
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro206Pro
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: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum

20-2443352-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443352
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443352
    reference: chr 20
allele count: 1
allele frequency: 8.899172376968941e-6
allele num: 112370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.615C>T
  hgvsp: ENST00000381342.2:c.615C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.378C>T
  hgvsp: ENST00000339610.6:c.378C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*526C>T
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.615C>T
  hgvsp: ENST00000438552.2:c.615C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8872
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6753
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4920
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18675
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4845
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3446
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2073
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11701
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5957
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4122
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4458
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile205Ile
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

20-2443352-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443352
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443352
    reference: chr 20
allele count: 19
allele frequency: 1.690842751624099e-4
allele num: 112370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.615C>G
  hgvsp: ENSP00000370746.2:p.Ile205Met
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.378C>G
  hgvsp: ENSP00000342305.6:p.Ile126Met
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*526C>G
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.615C>G
  hgvsp: ENSP00000412566.2:p.Ile205Met
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6753
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8872
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4920
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2800
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3446
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2073
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4122
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4845
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5957
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11701
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile205Met
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

20-2443355-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443355
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443355
    reference: chr 20
allele count: 325
allele frequency: 2.897026313912858e-3
allele num: 112184
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*523G>A
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.375G>A
  hgvsp: ENST00000339610.6:c.375G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.612G>A
  hgvsp: ENST00000381342.2:c.612G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.612G>A
  hgvsp: ENST00000438552.2:c.612G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9285
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 6.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 1.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 11385
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 5.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 5.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 8853
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4902
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 9.75e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 7.5e0
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 6730
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 6.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11702
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18758
  bin: 9.75e1
  variant carriers: 318
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4865
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4117
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4456
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3446
  bin: 9.25e1
  variant carriers: 3
hgvs: p.Gly204Gly
num of homozygotes: 6
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ

20-2443360-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443360
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443360
    reference: chr 20
allele count: 8
allele frequency: 7.150646239653908e-5
allele num: 111878
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.607A>G
  hgvsp: ENSP00000412566.2:p.Met203Val
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.370A>G
  hgvsp: ENSP00000342305.6:p.Met124Val
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.607A>G
  hgvsp: ENSP00000370746.2:p.Met203Val
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*518A>G
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4913
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3869
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9300
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6766
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2079
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2794
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4471
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11737
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3470
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5012
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Met203Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

20-2443363-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443363
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443363
    reference: chr 20
allele count: 286
allele frequency: 2.560979977792901e-3
allele num: 111676
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.604C>T
  hgvsp: ENSP00000412566.2:p.Pro202Ser
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.367C>T
  hgvsp: ENSP00000342305.6:p.Pro123Ser
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.604C>T
  hgvsp: ENSP00000370746.2:p.Pro202Ser
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*515C>T
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9275
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 4887
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 6743
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 5.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 9.75e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 6.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 8872
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3899
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 6.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 11418
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4967
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11694
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18585
  bin: 9.75e1
  variant carriers: 284
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5953
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4126
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro202Ser
num of homozygotes: 2
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

20-2443372-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443372
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443372
    reference: chr 20
allele count: 2
allele frequency: 1.804435301972248e-5
allele num: 110838
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*506A>G
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.358A>G
  hgvsp: ENSP00000342305.6:p.Met120Val
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.595A>G
  hgvsp: ENSP00000412566.2:p.Met199Val
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.595A>G
  hgvsp: ENSP00000370746.2:p.Met199Val
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6761
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4099
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4908
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5011
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5979
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2084
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18381
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3477
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2800
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11740
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met199Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

20-2443395-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443395
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443395
    reference: chr 20
allele count: 1
allele frequency: 9.137259918495641e-6
allele num: 109442
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.572C>A
  hgvsp: ENSP00000370746.2:p.Pro191Gln
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.572C>A
  hgvsp: ENSP00000412566.2:p.Pro191Gln
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*483C>A
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.335C>A
  hgvsp: ENSP00000342305.6:p.Pro112Gln
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9309
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11444
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6759
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3474
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4140
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11798
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2792
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2147
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4094
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5975
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro191Gln
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

20-2443410-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443410
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443410
    reference: chr 20
allele count: 2
allele frequency: 1.847506789587452e-5
allele num: 108254
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.560-3C>T
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*471-3C>T
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.323-3C>T
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.560-3C>T
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4907
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11411
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2082
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2771
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18374
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 11621
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3205
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3473
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5938
  bin: 6.75e1
  variant carriers: 0
hgvs: c.560-3C>T
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

20-2443411-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443411
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443411
    reference: chr 20
allele count: 30
allele frequency: 2.773104583017507e-4
allele num: 108182
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.323-4G>A
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*471-4G>A
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.560-4G>A
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.560-4G>A
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9281
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8895
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6745
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3469
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3297
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4130
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4451
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3072
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5928
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2771
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2079
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18376
  bin: 9.75e1
  variant carriers: 30
hgvs: c.560-4G>A
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

20-2443414-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443414
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443414
    reference: chr 20
allele count: 1
allele frequency: 9.257202103236319e-6
allele num: 108024
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.560-7C>G
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*471-7C>G
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.560-7C>G
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.323-7C>G
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11402
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4899
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6741
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4448
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18348
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4128
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2880
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2080
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11573
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2777
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3497
  bin: 7.5e0
  variant carriers: 0
hgvs: c.560-7C>G
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP

20-2443417-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443417
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443417
    reference: chr 20
allele count: 1
allele frequency: 9.273684991468209e-6
allele num: 107832
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.560-10T>A
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.323-10T>A
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*471-10T>A
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.560-10T>A
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6742
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4899
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8888
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11395
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18347
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3472
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2561
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4124
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2081
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3651
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 206
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11407
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2775
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

20-2443419-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443419
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443419
    reference: chr 20
allele count: 1
allele frequency: 9.283671877901148e-6
allele num: 107716
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*471-12T>C
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.560-12T>C
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.560-12T>C
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.323-12T>C
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8885
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3740
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11315
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3764
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5897
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2773
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2356
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4447
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4124
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2080
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS

20-2443428-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443428
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443428
    reference: chr 20
allele count: 2
allele frequency: 1.861088364475545e-5
allele num: 107464
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.323-21C>A
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.560-21C>A
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*471-21C>A
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.560-21C>A
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3914
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8867
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6736
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4895
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5861
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11112
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3883
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2073
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2748
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4109
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4415
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18336
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

20-2443441-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443441
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443441
    reference: chr 20
allele count: 17536
allele frequency: 1.635271737103212e-1
allele num: 107236
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.323-34C>T
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.560-34C>T
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.560-34C>T
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*471-34C>T
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.25e1
  variant carriers: 367
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 5.25e1
  variant carriers: 1812
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 6.25e1
  variant carriers: 961
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 1.25e1
  variant carriers: 292
genotype depth: GenotypeDepth
  all individuals: 10820
  bin: 3.25e1
  variant carriers: 1475
genotype depth: GenotypeDepth
  all individuals: 8726
  bin: 3.75e1
  variant carriers: 2039
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 2.25e1
  variant carriers: 503
genotype depth: GenotypeDepth
  all individuals: 8238
  bin: 2.75e1
  variant carriers: 933
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 5.75e1
  variant carriers: 1351
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 1.75e1
  variant carriers: 278
genotype depth: GenotypeDepth
  all individuals: 3669
  bin: 2.5e0
  variant carriers: 196
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.75e1
  variant carriers: 563
genotype depth: GenotypeDepth
  all individuals: 4825
  bin: 4.75e1
  variant carriers: 2195
genotype depth: GenotypeDepth
  all individuals: 6659
  bin: 4.25e1
  variant carriers: 2344
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 9.75e1
  variant carriers: 314
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.75e1
  variant carriers: 223
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.25e1
  variant carriers: 148
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 7.5e0
  variant carriers: 508
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 5.75e1
  variant carriers: 76
genotype quality: GenotypeQuality
  all individuals: 2464
  bin: 9.25e1
  variant carriers: 94
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 24245
  bin: 9.75e1
  variant carriers: 15566
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 1.25e1
  variant carriers: 50
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 3.25e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 2950
  bin: 7.5e0
  variant carriers: 89
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 5.25e1
  variant carriers: 57
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 3.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 1.75e1
  variant carriers: 77
genotype quality: GenotypeQuality
  all individuals: 8972
  bin: 6.25e1
  variant carriers: 75
genotype quality: GenotypeQuality
  all individuals: 1571
  bin: 8.75e1
  variant carriers: 89
genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 2.25e1
  variant carriers: 73
genotype quality: GenotypeQuality
  all individuals: 2252
  bin: 7.25e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 2.5e0
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 2.75e1
  variant carriers: 73
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.75e1
  variant carriers: 33
num of homozygotes: 1602
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ

20-2443443-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443443
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443443
    reference: chr 20
allele count: 97
allele frequency: 9.065928930594238e-4
allele num: 106994
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.323-36C>T
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.560-36C>T
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*471-36C>T
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.560-36C>T
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9268
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10426
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13178
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6052
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 4.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4392
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6916
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3329
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12164
  bin: 9.75e1
  variant carriers: 97
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1741
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12494
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3158
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP

20-2443450-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443450
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443450
    reference: chr 20
allele count: 2
allele frequency: 1.872799460633755e-5
allele num: 106792
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.323-43A>G
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.560-43A>G
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.560-43A>G
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*471-43A>G
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9073
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9159
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4385
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2069
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3108
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12090
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3435
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6677
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4955
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10291
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3326
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD

20-2443459-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443459
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443459
    reference: chr 20
allele count: 1
allele frequency: 9.392140656698475e-6
allele num: 106472
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.560-52A>G
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*471-52A>G
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.323-52A>G
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.560-52A>G
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10217
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3035
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6059
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8657
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2937
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4315
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2994
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12085
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1406
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1708
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2822
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3328
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6145
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2055
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2665
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/20-2443689-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443689
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443689
    reference: chr 20
allele count: 61
allele frequency: 5.76363430212782e-4
allele num: 105836
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.322+46T>G
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*470+46T>G
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.559+46T>G
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.559+46T>G
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20556
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4961
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5761
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4424
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 9.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9182
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6210
  bin: 9.75e1
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3129
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3801
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3248
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4364
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1903
  bin: 9.25e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD

20-2443690-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443690
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443690
    reference: chr 20
allele count: 23
allele frequency: 2.173255726056391e-4
allele num: 105832
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.322+45C>T
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.559+45C>T
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.559+45C>T
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*470+45C>T
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5765
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4954
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 9.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14431
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6155
  bin: 9.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 3840
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3130
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22972
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1906
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genotype quality: GenotypeQuality
  all individuals: 4366
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3252
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

20-2443691-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443691
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443691
    reference: chr 20
allele count: 1
allele frequency: 9.449652252797097e-6
allele num: 105824
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.559+44C>T
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.559+44C>T
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.322+44C>T
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*470+44C>T
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4957
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4443
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3132
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1906
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4366
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3254
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3868
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22983
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9190
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

20-2443695-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443695
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443695
    reference: chr 20
allele count: 1
allele frequency: 9.448937939375615e-6
allele num: 105832
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*470+40G>A
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.559+40G>A
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.559+40G>A
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.322+40G>A
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4891
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3980
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23035
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3130
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9194
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1904
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4357
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

20-2443705-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443705
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443705
    reference: chr 20
allele count: 1
allele frequency: 9.44697413418482e-6
allele num: 105854
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.559+30A>G
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.322+30A>G
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.559+30A>G
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*470+30A>G
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4636
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4354
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
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genotype quality: GenotypeQuality
  all individuals: 2089
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9196
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23043
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3249
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4054
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1902
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum

20-2443706-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443706
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443706
    reference: chr 20
allele count: 2
allele frequency: 1.88918066234674e-5
allele num: 105866
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.559+29A>T
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*470+29A>T
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.322+29A>T
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.559+29A>T
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4588
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4510
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14426
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4045
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9196
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1902
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
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genotype quality: GenotypeQuality
  all individuals: 610
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4353
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3249
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23070
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3123
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

20-2443711-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443711
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443711
    reference: chr 20
allele count: 3
allele frequency: 2.832165851632271e-5
allele num: 105926
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.559+24G>A
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*470+24G>A
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.559+24G>A
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.322+24G>A
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4312
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3116
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 356
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9193
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 25
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1902
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3249
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4351
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

20-2443723-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443723
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443723
    reference: chr 20
allele count: 1
allele frequency: 9.42560370991762e-6
allele num: 106094
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.322+12A>G
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*470+12A>G
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.559+12A>G
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.559+12A>G
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3848
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3116
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1901
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3399
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6133
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4343
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23044
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3333
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9178
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/20-2443727-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443727
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443727
    reference: chr 20
allele count: 4
allele frequency: 3.768678512879459e-5
allele num: 106138
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*470+8G>T
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.559+8G>T
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.559+8G>T
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.322+8G>T
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5770
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4042
  bin: 7.5e0
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genotype depth: GenotypeDepth
  all individuals: 14407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3244
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 4344
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23065
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6132
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 9170
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1900
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
hgvs: c.559+8G>T
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

20-2443738-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443738
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443738
    reference: chr 20
allele count: 1
allele frequency: 9.387379606856542e-6
allele num: 106526
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.556C>T
  hgvsp: ENSP00000370746.2:p.Pro186Ser
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.319C>T
  hgvsp: ENSP00000342305.6:p.Pro107Ser
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.556C>T
  hgvsp: ENSP00000412566.2:p.Pro186Ser
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*467C>T
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4675
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14401
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20527
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5770
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 242
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4332
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 1312
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 171
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2458
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3110
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genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1901
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genotype quality: GenotypeQuality
  all individuals: 9156
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro186Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

20-2443740-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443740
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443740
    reference: chr 20
allele count: 1
allele frequency: 9.382271260226676e-6
allele num: 106584
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.317C>T
  hgvsp: ENSP00000342305.6:p.Pro106Leu
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.554C>T
  hgvsp: ENSP00000370746.2:p.Pro185Leu
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.554C>T
  hgvsp: ENSP00000412566.2:p.Pro185Leu
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*465C>T
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 2.5e0
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genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 7.5e0
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genotype depth: GenotypeDepth
  all individuals: 4488
  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 590
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genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 250
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 23053
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro185Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

20-2443741-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443741
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443741
    reference: chr 20
allele count: 1
allele frequency: 9.376992610929823e-6
allele num: 106644
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*464C>G
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.316C>G
  hgvsp: ENSP00000342305.6:p.Pro106Ala
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.553C>G
  hgvsp: ENSP00000412566.2:p.Pro185Ala
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.553C>G
  hgvsp: ENSP00000370746.2:p.Pro185Ala
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4791
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20522
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2312
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9154
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6126
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4444
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4332
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1900
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23042
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro185Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

20-2443745-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443745
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443745
    reference: chr 20
allele count: 2
allele frequency: 1.873150264114187e-5
allele num: 106772
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*460A>G
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.549A>G
  hgvsp: ENST00000438552.2:c.549A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.549A>G
  hgvsp: ENST00000381342.2:c.549A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.312A>G
  hgvsp: ENST00000339610.6:c.312A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5770
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14392
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20498
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4857
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4493
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 272
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2192
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 348
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genotype quality: GenotypeQuality
  all individuals: 4331
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genotype quality: GenotypeQuality
  all individuals: 155
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4456
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 52
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genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9143
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3234
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genotype quality: GenotypeQuality
  all individuals: 366
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala183Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD

20-2443748-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443748
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443748
    reference: chr 20
allele count: 1
allele frequency: 9.337242525537358e-6
allele num: 107098
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.309A>G
  hgvsp: ENST00000339610.6:c.309A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*457A>G
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.546A>G
  hgvsp: ENST00000438552.2:c.546A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.546A>G
  hgvsp: ENST00000381342.2:c.546A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4929
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5769
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 231
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2006
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3231
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 343
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genotype quality: GenotypeQuality
  all individuals: 3108
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4630
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1899
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly182Gly
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

20-2443759-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443759
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443759
    reference: chr 20
allele count: 5
allele frequency: 4.618937644341802e-5
allele num: 108250
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.535A>G
  hgvsp: ENSP00000412566.2:p.Met179Val
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.535A>G
  hgvsp: ENSP00000370746.2:p.Met179Val
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*446A>G
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.298A>G
  hgvsp: ENSP00000342305.6:p.Met100Val
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4962
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
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genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 23268
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4911
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Met179Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

20-2443762-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443762
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443762
    reference: chr 20
allele count: 1
allele frequency: 9.217949190664061e-6
allele num: 108484
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*443C>T
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.532C>T
  hgvsp: ENSP00000370746.2:p.Pro178Ser
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.295C>T
  hgvsp: ENSP00000342305.6:p.Pro99Ser
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.532C>T
  hgvsp: ENSP00000412566.2:p.Pro178Ser
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4932
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4903
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14358
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4323
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4961
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3238
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9147
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro178Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

20-2443764-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443764
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443764
    reference: chr 20
allele count: 1
allele frequency: 9.199462751375319e-6
allele num: 108702
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.530C>T
  hgvsp: ENSP00000412566.2:p.Pro177Leu
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.293C>T
  hgvsp: ENSP00000342305.6:p.Pro98Leu
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*441C>T
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.530C>T
  hgvsp: ENSP00000370746.2:p.Pro177Leu
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5767
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20497
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 23387
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genotype quality: GenotypeQuality
  all individuals: 4324
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 378
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1899
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genotype quality: GenotypeQuality
  all individuals: 9156
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro177Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

20-2443764-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443764
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443764
    reference: chr 20
allele count: 3
allele frequency: 2.759838825412596e-5
allele num: 108702
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.293C>A
  hgvsp: ENSP00000342305.6:p.Pro98Gln
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.530C>A
  hgvsp: ENSP00000370746.2:p.Pro177Gln
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.530C>A
  hgvsp: ENSP00000412566.2:p.Pro177Gln
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*441C>A
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5767
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4847
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 3
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro177Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff

20-2443767-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443767
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443767
    reference: chr 20
allele count: 1
allele frequency: 9.16791961568081e-6
allele num: 109076
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.527C>T
  hgvsp: ENSP00000370746.2:p.Pro176Leu
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.527C>T
  hgvsp: ENSP00000412566.2:p.Pro176Leu
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.290C>T
  hgvsp: ENSP00000342305.6:p.Pro97Leu
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*438C>T
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5103
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3230
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genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 415
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro176Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS

20-2443768-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443768
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443768
    reference: chr 20
allele count: 0
allele frequency: 0.0e0
allele num: 109158
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.289C>G
  hgvsp: ENSP00000342305.6:p.Pro97Ala
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.526C>G
  hgvsp: ENSP00000370746.2:p.Pro176Ala
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.526C>G
  hgvsp: ENSP00000412566.2:p.Pro176Ala
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*437C>G
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4706
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5761
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9154
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4773
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6107
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23491
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3227
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3108
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro176Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

20-2443780-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443780
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443780
    reference: chr 20
allele count: 1
allele frequency: 9.001872389457007e-6
allele num: 111088
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.277C>T
  hgvsp: ENSP00000342305.6:p.Arg93Cys
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*425C>T
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.514C>T
  hgvsp: ENSP00000412566.2:p.Arg172Cys
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.514C>T
  hgvsp: ENSP00000370746.2:p.Arg172Cys
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6094
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4327
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9233
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24011
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4012
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg172Cys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP

20-2443781-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443781
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443781
    reference: chr 20
allele count: 1
allele frequency: 8.987309918395227e-6
allele num: 111268
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.513C>G
  hgvsp: ENST00000438552.2:c.513C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.276C>G
  hgvsp: ENST00000339610.6:c.276C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.513C>G
  hgvsp: ENST00000381342.2:c.513C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*424C>G
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20566
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5963
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3778
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9237
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3112
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24178
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4329
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3968
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6093
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly171Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

20-2443807-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443807
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443807
    reference: chr 20
allele count: 3
allele frequency: 2.621140370803991e-5
allele num: 114454
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.487G>A
  hgvsp: ENSP00000412566.2:p.Gly163Arg
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.250G>A
  hgvsp: ENSP00000342305.6:p.Gly84Arg
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.487G>A
  hgvsp: ENSP00000370746.2:p.Gly163Arg
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*398G>A
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6092
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3150
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9539
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1905
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25591
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2585
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly163Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

20-2443808-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443808
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443808
    reference: chr 20
allele count: 3
allele frequency: 2.618120887368439e-5
allele num: 114586
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.486C>T
  hgvsp: ENST00000438552.2:c.486C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*397C>T
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.249C>T
  hgvsp: ENST00000339610.6:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.486C>T
  hgvsp: ENST00000381342.2:c.486C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20992
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7555
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25527
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2471
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1316
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4455
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1905
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3153
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3329
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala162Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

20-2443822-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443822
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443822
    reference: chr 20
allele count: 15
allele frequency: 1.332243853915021e-4
allele num: 112592
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.472A>C
  hgvsp: ENSP00000370746.2:p.Thr158Pro
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.472A>C
  hgvsp: ENSP00000412566.2:p.Thr158Pro
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*383A>C
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.235A>C
  hgvsp: ENSP00000342305.6:p.Thr79Pro
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5658
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21147
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14347
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7955
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1879
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4373
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9333
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25183
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 2.25e1
  variant carriers: 2
hgvs: p.Thr158Pro
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP

20-2443829-A-AGCTGCAGCG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443829
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443838
    reference: chr 20
allele count: 1
allele frequency: 8.673177331783726e-6
allele num: 115298
alternate allele: AGCTGCAGCG
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.219_227dupCGCTGCAGC
  hgvsp: ENSP00000342305.6:p.Ala74_Ala76dup
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.456_464dupCGCTGCAGC
  hgvsp: ENSP00000412566.2:p.Ala153_Ala155dup
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.456_464dupCGCTGCAGC
  hgvsp: ENSP00000370746.2:p.Ala153_Ala155dup
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 5715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7898
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2653
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5733
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4472
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3187
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25990
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1818
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3377
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala153_Ala155dup
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff

20-2443830-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443830
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443830
    reference: chr 20
allele count: 1
allele frequency: 8.679048776254123e-6
allele num: 115220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.464C>T
  hgvsp: ENSP00000370746.2:p.Ala155Val
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*375C>T
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.464C>T
  hgvsp: ENSP00000412566.2:p.Ala155Val
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.227C>T
  hgvsp: ENSP00000342305.6:p.Ala76Val
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5712
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4476
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1703
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9530
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3378
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5733
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1941
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala155Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ

20-2443833-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443833
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443833
    reference: chr 20
allele count: 1
allele frequency: 8.660858117822314e-6
allele num: 115462
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.461C>T
  hgvsp: ENSP00000412566.2:p.Ala154Val
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.224C>T
  hgvsp: ENSP00000342305.6:p.Ala75Val
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.461C>T
  hgvsp: ENSP00000370746.2:p.Ala154Val
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*372C>T
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5737
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4483
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3195
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1807
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9565
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1945
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala154Val
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

20-2443837-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443837
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443837
    reference: chr 20
allele count: 1
allele frequency: 8.642295393656555e-6
allele num: 115710
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.220G>A
  hgvsp: ENSP00000342305.6:p.Ala74Thr
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.457G>A
  hgvsp: ENSP00000370746.2:p.Ala153Thr
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*368G>A
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.457G>A
  hgvsp: ENSP00000412566.2:p.Ala153Thr
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2653
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8012
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5728
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21850
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3197
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1945
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9616
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4495
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5737
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3396
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala153Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

20-2443838-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443838
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443838
    reference: chr 20
allele count: 16
allele frequency: 1.381978993919292e-4
allele num: 115776
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.456C>T
  hgvsp: ENST00000438552.2:c.456C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.456C>T
  hgvsp: ENST00000381342.2:c.456C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.219C>T
  hgvsp: ENST00000339610.6:c.219C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*367C>T
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14624
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2653
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3204
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26492
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1778
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1947
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5742
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 9642
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3401
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala152Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

20-2443839-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443839
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443839
    reference: chr 20
allele count: 1
allele frequency: 8.631702517004453e-6
allele num: 115852
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.455C>T
  hgvsp: ENSP00000412566.2:p.Ala152Val
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.455C>T
  hgvsp: ENSP00000370746.2:p.Ala152Val
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.218C>T
  hgvsp: ENSP00000342305.6:p.Ala73Val
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*366C>T
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21877
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8125
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1790
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9657
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26605
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5730
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4517
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala152Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

20-2443842-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443842
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443842
    reference: chr 20
allele count: 0
allele frequency: 0.0e0
allele num: 115956
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*363C>G
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.452C>G
  hgvsp: ENSP00000412566.2:p.Ala151Gly
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.215C>G
  hgvsp: ENSP00000342305.6:p.Ala72Gly
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.452C>G
  hgvsp: ENSP00000370746.2:p.Ala151Gly
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8275
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4524
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26759
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9670
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3409
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1713
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5729
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Ala151Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS

20-2443846-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443846
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443846
    reference: chr 20
allele count: 1
allele frequency: 8.619649352664333e-6
allele num: 116014
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.448G>A
  hgvsp: ENSP00000412566.2:p.Val150Ile
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.448G>A
  hgvsp: ENSP00000370746.2:p.Val150Ile
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.211G>A
  hgvsp: ENSP00000342305.6:p.Val71Ile
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*359G>A
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26852
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4527
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9700
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1947
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3212
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val150Ile
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

20-2443871-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443871
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443871
    reference: chr 20
allele count: 1
allele frequency: 8.614154779133072e-6
allele num: 116088
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.423G>A
  hgvsp: ENST00000438552.2:c.423G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.186G>A
  hgvsp: ENST00000339610.6:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.423G>A
  hgvsp: ENST00000381342.2:c.423G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*334G>A
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3408
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5703
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9734
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1939
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
hgvs: c.423G>A
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

20-2443881-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443881
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443881
    reference: chr 20
allele count: 2
allele frequency: 1.724970675498516e-5
allele num: 115944
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*332-8C>T
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.421-8C>T
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.421-8C>T
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.184-8C>T
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 2.5e0
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genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 325
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5699
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1707
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1936
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
hgvs: c.421-8C>T
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP

20-2443885-TAAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443885
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443882
    reference: chr 20
allele count: 36
allele frequency: 3.105000776250194e-4
allele num: 115942
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.421-15_421-13delCTT
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.184-15_184-13delCTT
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.421-15_421-13delCTT
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*332-15_*332-13delCTT
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8422
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5640
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14368
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21831
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3169
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3343
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9484
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1936
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1785
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5726
  bin: 9.75e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4446
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: TAAG
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

20-2443888-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443888
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443888
    reference: chr 20
allele count: 1
allele frequency: 8.632894782278393e-6
allele num: 115836
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.184-15C>G
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.421-15C>G
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.421-15C>G
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*332-15C>G
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1845
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1935
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3328
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26601
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4433
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9437
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5713
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

20-2443888-GAAGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443888
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443884
    reference: chr 20
allele count: 26
allele frequency: 2.244552643392382e-4
allele num: 115836
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*332-19_*332-16delTCTT
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.421-19_421-16delTCTT
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.184-19_184-16delTCTT
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.421-19_421-16delTCTT
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5637
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14294
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3156
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1935
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5713
  bin: 9.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 1845
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3328
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4433
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9437
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: GAAGA
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum

20-2443895-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443895
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443895
    reference: chr 20
allele count: 1
allele frequency: 8.644237751115106e-6
allele num: 115684
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.421-22C>G
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.184-22C>G
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.421-22C>G
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*332-22C>G
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13711
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5685
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 1934
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8808
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

20-2443897-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443897
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443897
    reference: chr 20
allele count: 2
allele frequency: 1.728937222289459e-5
allele num: 115678
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*332-24C>G
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.184-24C>G
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.421-24C>G
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.421-24C>G
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5481
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5685
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8792
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1934
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25628
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3136
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2140
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

20-2443899-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443899
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443899
    reference: chr 20
allele count: 1
allele frequency: 8.644237751115106e-6
allele num: 115684
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.184-26A>G
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.421-26A>G
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.421-26A>G
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*332-26A>G
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13553
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20833
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8768
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3132
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2192
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3184
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25483
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5683
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD

20-2443907-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2443907
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2443907
    reference: chr 20
allele count: 1
allele frequency: 8.658458448057908e-6
allele num: 115494
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000370746
  ensembl transcript: ENST00000381342
  gene symbol: SNRPB
  hgvsc: ENST00000381342.2:c.421-34A>G
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000412566
  ensembl transcript: ENST00000438552
  gene symbol: SNRPB
  hgvsc: ENST00000438552.2:c.421-34A>G
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000474579
  ensembl transcript: ENST00000474384
  gene symbol: SNRPB
  hgvsc: ENST00000474384.1:c.*332-34A>G
  variant of: http://identifiers.org/hgnc/11153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125835
  ensembl protein: ENSP00000342305
  ensembl transcript: ENST00000339610
  gene symbol: SNRPB
  hgvsc: ENST00000339610.6:c.184-34A>G
  variant of: http://identifiers.org/hgnc/11153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18631
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12376
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3974
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1312
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1869
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3090
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21876
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3086
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1772
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8067
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 4167
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63506
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 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: 9318
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

MQRankSum
type: SiteQuality
SIO_000300: -1.559e0

DP
type: SiteQuality
SIO_000300: 2.276971e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.622e0

QD
type: SiteQuality
SIO_000300: 1.629e1

FS
type: SiteQuality
SIO_000300: 1.871e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.145e0

GenotypeQuality
all individuals: 6682
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3466
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4166
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.574307304785894e-5
allele num: 63520
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9326
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.213e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.12e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.219e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

FS
type: SiteQuality
SIO_000300: 4.31e0

QD
type: SiteQuality
SIO_000300: 1.358e1

DP
type: SiteQuality
SIO_000300: 2.277487e6

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
all individuals: 59
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4594
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15472
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9332
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.169317118802619e-4
allele num: 8552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63528
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-2

MQ
type: SiteQuality
SIO_000300: 5.977e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.78e0

DP
type: SiteQuality
SIO_000300: 2.27751e6

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

QD
type: SiteQuality
SIO_000300: 1.177e1

VQSLOD
type: SiteQuality
SIO_000300: 4.79e0

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

GenotypeQuality
all individuals: 3466
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18700
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4594
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.143163309044149e-4
allele num: 9332
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.79e0

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-1

QD
type: SiteQuality
SIO_000300: 1.177e1

DP
type: SiteQuality
SIO_000300: 2.27751e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.78e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

GenotypeQuality
all individuals: 4594
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18695
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2076
bin: 8.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.573613646377541e-5
allele num: 63548
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.24e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.381e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
SIO_000300: 1.174e1

DP
type: SiteQuality
SIO_000300: 2.276996e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.1e-2

FS
type: SiteQuality
SIO_000300: 1.448e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.85e-1

GenotypeQuality
all individuals: 2075
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4592
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3465
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.573613646377541e-5
allele num: 63548
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9328
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.79e-1

DP
type: SiteQuality
SIO_000300: 2.276703e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.016e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.139999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.989e1

FS
type: SiteQuality
SIO_000300: 4.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.637e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

QD
type: SiteQuality
SIO_000300: 1.278e1

GenotypeQuality
all individuals: 65
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4593
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18692
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4165
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9328
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.147029204431017e-5
allele num: 63552
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.639999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

DP
type: SiteQuality
SIO_000300: 2.276559e6

FS
type: SiteQuality
SIO_000300: 8.19e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.16e-1

QD
type: SiteQuality
SIO_000300: 1.181e1

VQSLOD
type: SiteQuality
SIO_000300: 9.1e-2

MQ
type: SiteQuality
SIO_000300: 5.908e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6650
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 15398
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9326
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.674531575294934e-5
allele num: 11528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63554
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.01e-1

FS
type: SiteQuality
SIO_000300: 4.484e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.64e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.276272e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

QD
type: SiteQuality
SIO_000300: 1.103e1

MQRankSum
type: SiteQuality
SIO_000300: 2.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.25e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9336
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.10798924993892e-5
allele num: 16372
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63582
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.551e0

DP
type: SiteQuality
SIO_000300: 2.273581e6

MQRankSum
type: SiteQuality
SIO_000300: -1.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.18e0

VQSLOD
type: SiteQuality
SIO_000300: -1.507e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

QD
type: SiteQuality
SIO_000300: 8.16e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.99e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 4574
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63576
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.119951040391677e-5
allele num: 16340
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

QD
type: SiteQuality
SIO_000300: 1.435e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.273137e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.99e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.56e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

VQSLOD
type: SiteQuality
SIO_000300: 2.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.7e-2

GenotypeQuality
all individuals: 150
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3459
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.574654363367241e-5
allele num: 63506
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9260
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16018
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

MQ
type: SiteQuality
SIO_000300: 5.926e1

FS
type: SiteQuality
SIO_000300: 2.094e0

VQSLOD
type: SiteQuality
SIO_000300: 3.07e-1

DP
type: SiteQuality
SIO_000300: 2.261508e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

QD
type: SiteQuality
SIO_000300: 9.279999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.44e-1

GenotypeQuality
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bin: 6.75e1
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: 9.75e1
variant carriers: 6

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9214
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.462229932187352e-5
allele num: 63410
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15608
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

MQRankSum
type: SiteQuality
SIO_000300: -2.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

FS
type: SiteQuality
SIO_000300: 4.14e0

DP
type: SiteQuality
SIO_000300: 2.247832e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.44e0

QD
type: SiteQuality
SIO_000300: 1.217e1

MQ
type: SiteQuality
SIO_000300: 5.957e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.98e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2850
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13730
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.577187559144533e-5
allele num: 63404
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15344
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9226
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

DP
type: SiteQuality
SIO_000300: 2.239732e6

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

FS
type: SiteQuality
SIO_000300: 1.538e0

QD
type: SiteQuality
SIO_000300: 9.609999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

VQSLOD
type: SiteQuality
SIO_000300: 1.47e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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: 8574
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.632179334129194e-5
allele num: 15078
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63312
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.761e0

QD
type: SiteQuality
SIO_000300: 8.74e0

VQSLOD
type: SiteQuality
SIO_000300: -1.433e0

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.1e-2

DP
type: SiteQuality
SIO_000300: 2.234783e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.74e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63310
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9186
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

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

South Asian
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allele frequency: 6.884207627702051e-5
allele num: 14526
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.165501165501166e-3
allele num: 858
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.52e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

VQSLOD
type: SiteQuality
SIO_000300: 4.6e-1

FS
type: SiteQuality
SIO_000300: 3.291e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

QD
type: SiteQuality
SIO_000300: 1.597e1

DP
type: SiteQuality
SIO_000300: 2.221896e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13214
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.104240282685512e-4
allele num: 9056
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
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: 62988
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.697e0

DP
type: SiteQuality
SIO_000300: 2.200011e6

MQRankSum
type: SiteQuality
SIO_000300: 2.81e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.456e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.1e-1

QD
type: SiteQuality
SIO_000300: 1.221e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.143e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.755545214828603e-5
allele num: 12894
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62934
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9060
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

DP
type: SiteQuality
SIO_000300: 2.196854e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

MQ
type: SiteQuality
SIO_000300: 5.98e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

VQSLOD
type: SiteQuality
SIO_000300: 5.54e0

QD
type: SiteQuality
SIO_000300: 1.401e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 19

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4458
bin: 7.75e1
variant carriers: 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: 19
allele frequency: 3.019035815298567e-4
allele num: 62934
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9060
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12894
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.54e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.73e-1

QD
type: SiteQuality
SIO_000300: 1.401e1

MQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.01e-1

DP
type: SiteQuality
SIO_000300: 2.196854e6

GenotypeQuality
all individuals: 5933
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2790
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2071
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 71
bin: 4.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.769475357710652e-5
allele num: 62900
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

African
type: Population
allele count: 296
allele frequency: 3.252747252747253e-2
allele num: 9100
num of homozygotes: 6

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

Latino
type: Population
allele count: 26
allele frequency: 2.265202997037811e-3
allele num: 11478
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12714
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.412e1

VQSLOD
type: SiteQuality
SIO_000300: 6.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.48e-2

DP
type: SiteQuality
SIO_000300: 2.203356e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.919e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.25e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

GenotypeQuality
all individuals: 4134
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5956
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18545
bin: 9.75e1
variant carriers: 8

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.601537475976938e-4
allele num: 12488
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.546843177189409e-5
allele num: 62848
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9084
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.18845e6

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

QD
type: SiteQuality
SIO_000300: 1.481e1

MQ
type: SiteQuality
SIO_000300: 5.943e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.63e0

FS
type: SiteQuality
SIO_000300: 1.157e0

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

GenotypeQuality
all individuals: 2788
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3462
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2073
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4463
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.100352112676056e-4
allele num: 9088
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.415458937198068e-3
allele num: 828
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 4.883607357968419e-4
allele num: 12286
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 154
allele frequency: 2.330508474576271e-2
allele num: 6608
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 123
allele frequency: 1.9569782982244e-3
allele num: 62852
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.379999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

DP
type: SiteQuality
SIO_000300: 2.193917e6

MQRankSum
type: SiteQuality
SIO_000300: 2.32e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.451e1

GenotypeQuality
all individuals: 121
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4152
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4489
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.100594320933304e-4
allele num: 9086
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11618
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.594794590456749e-5
allele num: 62704
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.177346e6

VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.94e0

MQRankSum
type: SiteQuality
SIO_000300: 1.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

FS
type: SiteQuality
SIO_000300: 2.513e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.92e-1

QD
type: SiteQuality
SIO_000300: 1.563e1

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4475
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18378
bin: 9.75e1
variant carriers: 1

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.59836327600537e-5
allele num: 62564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9138
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

QD
type: SiteQuality
SIO_000300: 1.073e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

DP
type: SiteQuality
SIO_000300: 2.167717e6

MQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.120000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 183
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4134
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4456
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3179
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9098
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.209654641160611e-5
allele num: 62312
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

DP
type: SiteQuality
SIO_000300: 2.155375e6

MQ
type: SiteQuality
SIO_000300: 5.961e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.75e-1

FS
type: SiteQuality
SIO_000300: 6.847e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.971e0

MQRankSum
type: SiteQuality
SIO_000300: -3.78e-1

QD
type: SiteQuality
SIO_000300: 1.248e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.28e-1

GenotypeQuality
all individuals: 11610
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.604827320580306e-5
allele num: 62312
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

East Asian
type: Population
allele count: 29
allele frequency: 3.42304060434372e-3
allele num: 8472
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9098
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.092e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.84e-1

DP
type: SiteQuality
SIO_000300: 2.154946e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.231e0

VQSLOD
type: SiteQuality
SIO_000300: 3.88e0

GenotypeQuality
all individuals: 5923
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3473
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
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: 9082
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9392
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: 786
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.605858170606372e-5
allele num: 62272
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.91e0

QD
type: SiteQuality
SIO_000300: 1.244e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

MQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

MQ
type: SiteQuality
SIO_000300: 5.955e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.95e-1

FS
type: SiteQuality
SIO_000300: 3.12e0

DP
type: SiteQuality
SIO_000300: 2.151108e6

GenotypeQuality
all individuals: 5912
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4448
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62210
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9064
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9290
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.515610791148833e-4
allele num: 6598
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.3e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.5e-1

QD
type: SiteQuality
SIO_000300: 1.329e1

DP
type: SiteQuality
SIO_000300: 2.147777e6

MQ
type: SiteQuality
SIO_000300: 5.981e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.886e0

VQSLOD
type: SiteQuality
SIO_000300: 4.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

GenotypeQuality
all individuals: 3472
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18346
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9054
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.608234158893535e-5
allele num: 62180
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.452e1

DP
type: SiteQuality
SIO_000300: 2.145516e6

VQSLOD
type: SiteQuality
SIO_000300: 5.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.131e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.97e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

FS
type: SiteQuality
SIO_000300: 4.073e0

GenotypeQuality
all individuals: 2008
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3469
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 2.75e1
variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 2.213858755811379e-4
allele num: 9034
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11418
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62082
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8426
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

FS
type: SiteQuality
SIO_000300: 5.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.7e-1

MQ
type: SiteQuality
SIO_000300: 5.903e1

QD
type: SiteQuality
SIO_000300: 2.784e1

VQSLOD
type: SiteQuality
SIO_000300: -2.507e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.83e-1

DP
type: SiteQuality
SIO_000300: 2.137911e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e-1

GenotypeQuality
all individuals: 3586
bin: 7.75e1
variant carriers: 63

GenotypeQuality
all individuals: 4984
bin: 6.75e1
variant carriers: 48

GenotypeQuality
all individuals: 3214
bin: 8.25e1
variant carriers: 96

South Asian
type: Population
allele count: 1746
allele frequency: 1.934840425531915e-1
allele num: 9024
num of homozygotes: 191

European (Finnish)
type: Population
allele count: 1153
allele frequency: 1.751747189304163e-1
allele num: 6582
num of homozygotes: 97

Other
type: Population
allele count: 111
allele frequency: 1.437823834196891e-1
allele num: 772
num of homozygotes: 17

European (Non-Finnish)
type: Population
allele count: 7688
allele frequency: 1.239240465521132e-1
allele num: 62038
num of homozygotes: 491

Latino
type: Population
allele count: 2533
allele frequency: 2.223880597014925e-1
allele num: 11390
num of homozygotes: 285

East Asian
type: Population
allele count: 2047
allele frequency: 2.446223709369025e-1
allele num: 8368
num of homozygotes: 233

African
type: Population
allele count: 2258
allele frequency: 2.491723681306555e-1
allele num: 9062
num of homozygotes: 288

ClippingRankSum
type: SiteQuality
SIO_000300: -1.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.839e0

QD
type: SiteQuality
SIO_000300: 1.557e1

VQSLOD
type: SiteQuality
SIO_000300: 4.82e0

FS
type: SiteQuality
SIO_000300: 7.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

DP
type: SiteQuality
SIO_000300: 2.138599e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
all individuals: 5017
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3763
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2077
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.75561797752809e-4
allele num: 11392
num of homozygotes: 0

East Asian
type: Population
allele count: 90
allele frequency: 1.075011944577162e-2
allele num: 8372
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.334074238719716e-4
allele num: 8998
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61910
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.231644722160232e-4
allele num: 8962
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
type: SiteQuality
SIO_000300: 3.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.041e0

VQSLOD
type: SiteQuality
SIO_000300: 4.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

QD
type: SiteQuality
SIO_000300: 1.672e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.94774e6

GenotypeQuality
all individuals: 628
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1086
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 1.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8976
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8350
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8940
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.236874474007898e-5
allele num: 61788
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-2

MQ
type: SiteQuality
SIO_000300: 5.951e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -8.199e-1

DP
type: SiteQuality
SIO_000300: 1.920852e6

QD
type: SiteQuality
SIO_000300: 2.104e1

GenotypeQuality
all individuals: 5178
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1441
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4735
bin: 7.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11368
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8956
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.622691721026839e-5
allele num: 61626
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8268
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.48e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.397e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

FS
type: SiteQuality
SIO_000300: 9.416e0

VQSLOD
type: SiteQuality
SIO_000300: -3.99e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.95e-1

DP
type: SiteQuality
SIO_000300: 1.88812e6

GenotypeQuality
all individuals: 33
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1317
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22933
bin: 6.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 37
allele frequency: 6.077130280533474e-4
allele num: 60884
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8414
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.205071664829107e-4
allele num: 9070
num of homozygotes: 0

Latino
type: Population
allele count: 20
allele frequency: 1.748557440111908e-3
allele num: 11438
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.97e0

FS
type: SiteQuality
SIO_000300: 1.574e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.27e-1

QD
type: SiteQuality
SIO_000300: 1.407e1

DP
type: SiteQuality
SIO_000300: 1.772855e6

MQ
type: SiteQuality
SIO_000300: 5.978e1

VQSLOD
type: SiteQuality
SIO_000300: 4.0e0

GenotypeQuality
all individuals: 9189
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1318
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

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

East Asian
type: Population
allele count: 23
allele frequency: 2.732889733840304e-3
allele num: 8416
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9072
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60880
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.767209e6

MQ
type: SiteQuality
SIO_000300: 5.979e1

VQSLOD
type: SiteQuality
SIO_000300: 3.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-3

QD
type: SiteQuality
SIO_000300: 1.232e1

MQRankSum
type: SiteQuality
SIO_000300: -2.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.845e0

GenotypeQuality
all individuals: 1319
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6140
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 920
bin: 1.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.642791431199895e-5
allele num: 60872
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9070
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

MQRankSum
type: SiteQuality
SIO_000300: 1.66e0

FS
type: SiteQuality
SIO_000300: 4.416e0

DP
type: SiteQuality
SIO_000300: 1.764337e6

MQ
type: SiteQuality
SIO_000300: 5.983e1

QD
type: SiteQuality
SIO_000300: 1.793e1

VQSLOD
type: SiteQuality
SIO_000300: -9.704e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.206e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3257
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6139
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9082
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8414
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.642791431199895e-5
allele num: 60872
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.337e0

QD
type: SiteQuality
SIO_000300: 1.274e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.325e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

VQSLOD
type: SiteQuality
SIO_000300: -4.885e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.526e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.85e-1

DP
type: SiteQuality
SIO_000300: 1.765039e6

GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6137
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3125
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.642467643387425e-5
allele num: 60884
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8420
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9094
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.251e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

DP
type: SiteQuality
SIO_000300: 1.767274e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.44e0

QD
type: SiteQuality
SIO_000300: 1.357e1

VQSLOD
type: SiteQuality
SIO_000300: -1.032e0

MQRankSum
type: SiteQuality
SIO_000300: 2.52e0

GenotypeQuality
all individuals: 6137
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.197802197802198e-4
allele num: 9100
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60886
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.767617e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

QD
type: SiteQuality
SIO_000300: 1.218e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

FS
type: SiteQuality
SIO_000300: 4.347e0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23075
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1316
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.925137903861308e-5
allele num: 60912
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8422
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9132
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.22e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

FS
type: SiteQuality
SIO_000300: 2.002e0

DP
type: SiteQuality
SIO_000300: 1.769516e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.397e0

MQRankSum
type: SiteQuality
SIO_000300: -5.98e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

QD
type: SiteQuality
SIO_000300: 1.043e1

GenotypeQuality
all individuals: 1314
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3247
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8656
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.745845723281441e-5
allele num: 11434
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9284
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8424
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60918
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.773328e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e0

FS
type: SiteQuality
SIO_000300: 7.466e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

QD
type: SiteQuality
SIO_000300: 1.181e1

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3113
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3109
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3503
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.565988181221274e-5
allele num: 60920
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8422
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8670
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.239e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

MQ
type: SiteQuality
SIO_000300: 5.959e1

FS
type: SiteQuality
SIO_000300: 1.13e0

MQRankSum
type: SiteQuality
SIO_000300: -6.67e-1

QD
type: SiteQuality
SIO_000300: 1.306e1

VQSLOD
type: SiteQuality
SIO_000300: 5.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.516e0

DP
type: SiteQuality
SIO_000300: 1.774862e6

GenotypeQuality
all individuals: 6128
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23053
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.639989504067174e-5
allele num: 60976
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8680
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8432
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9620
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.04e-1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.37e1

DP
type: SiteQuality
SIO_000300: 1.778837e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.3037e1

MQ
type: SiteQuality
SIO_000300: 5.989e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.326e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8438
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9650
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.639559286463799e-5
allele num: 60992
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.779493e6

MQRankSum
type: SiteQuality
SIO_000300: -1.91e-1

FS
type: SiteQuality
SIO_000300: 4.979e0

MQ
type: SiteQuality
SIO_000300: 5.988e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.275e0

QD
type: SiteQuality
SIO_000300: 1.396e1

VQSLOD
type: SiteQuality
SIO_000300: 3.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.21e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8442
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8692
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.639236771359255e-5
allele num: 61004
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9688
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.987e1

FS
type: SiteQuality
SIO_000300: 6.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.1e-1

QD
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SIO_000300: 1.339e1

VQSLOD
type: SiteQuality
SIO_000300: 6.5e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.447e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.02e-1

DP
type: SiteQuality
SIO_000300: 1.779725e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61032
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.296211251435132e-4
allele num: 8710
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9770
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

FS
type: SiteQuality
SIO_000300: 3.878e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.63e-1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.78068e6

VQSLOD
type: SiteQuality
SIO_000300: 7.16e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.255e0

QD
type: SiteQuality
SIO_000300: 1.206e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 8718
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 1.0e-4
allele num: 10000
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61112
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.86e-1

FS
type: SiteQuality
SIO_000300: 3.464e0

VQSLOD
type: SiteQuality
SIO_000300: 8.7e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.7e-2

MQ
type: SiteQuality
SIO_000300: 5.934e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

DP
type: SiteQuality
SIO_000300: 1.782161e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.62999185004075e-5
allele num: 61350
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
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African
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allele count: 3
allele frequency: 3.429355281207133e-4
allele num: 8748
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8470
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.230201218386561e-5
allele num: 10834
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.78e0

MQRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.37e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

FS
type: SiteQuality
SIO_000300: 5.21e-1

QD
type: SiteQuality
SIO_000300: 1.564e1

DP
type: SiteQuality
SIO_000300: 1.790681e6

VQSLOD
type: SiteQuality
SIO_000300: 8.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.21e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.628664495114006e-5
allele num: 61400
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10988
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8768
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Other
type: Population
allele count: 0
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.12e-1

QD
type: SiteQuality
SIO_000300: 1.214e1

MQRankSum
type: SiteQuality
SIO_000300: -5.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.375e0

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 7.64e-1

MQ
type: SiteQuality
SIO_000300: 5.988e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.61e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

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

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

African
type: Population
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allele frequency: 0.0e0
allele num: 8788
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.627339300244101e-5
allele num: 61450
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.882017900732303e-5
allele num: 61450
num of homozygotes: 0

South Asian
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East Asian
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allele frequency: 0.0e0
allele num: 8484
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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Other
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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ClippingRankSum
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QD
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.624484226258163e-5
allele num: 61558
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Other
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allele frequency: 0.0e0
allele num: 800
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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QD
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MQ
type: SiteQuality
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ReadPosRankSum
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DP
type: SiteQuality
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FS
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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European (Finnish)
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Other
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South Asian
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African
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VQSLOD
type: SiteQuality
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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MQ
type: SiteQuality
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FS
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62046
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.122586439155815e-4
allele num: 8908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12914
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

MQRankSum
type: SiteQuality
SIO_000300: -1.28e-1

MQ
type: SiteQuality
SIO_000300: 5.99e1

DP
type: SiteQuality
SIO_000300: 1.808397e6

FS
type: SiteQuality
SIO_000300: 2.159e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.272e0

QD
type: SiteQuality
SIO_000300: 1.307e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.215e0

VQSLOD
type: SiteQuality
SIO_000300: 9.71e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.773877343178129e-5
allele num: 62842
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9106
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15040
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.37e-1

DP
type: SiteQuality
SIO_000300: 1.837922e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

FS
type: SiteQuality
SIO_000300: 7.996e0

MQ
type: SiteQuality
SIO_000300: 5.927e1

MQRankSum
type: SiteQuality
SIO_000300: 5.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

VQSLOD
type: SiteQuality
SIO_000300: 7.71e-1

QD
type: SiteQuality
SIO_000300: 1.292e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62862
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.980982567353407e-4
allele num: 15144
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9108
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 7.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.09e-1

FS
type: SiteQuality
SIO_000300: 1.126e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 9.25e0

DP
type: SiteQuality
SIO_000300: 1.838244e6

MQRankSum
type: SiteQuality
SIO_000300: 7.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.34e-1

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 1

African
type: Population
allele count: 4
allele frequency: 4.699248120300752e-4
allele num: 8512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.602050624799744e-4
allele num: 6242
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.465225319093514e-4
allele num: 61424
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15786
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.18595825426945e-4
allele num: 8432
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.926e2

MQRankSum
type: SiteQuality
SIO_000300: 3.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.506e0

MQ
type: SiteQuality
SIO_000300: 5.858e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.396e0

QD
type: SiteQuality
SIO_000300: 3.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.3e-3

FS
type: SiteQuality
SIO_000300: 2.50711e2

DP
type: SiteQuality
SIO_000300: 1.81999e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62912
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16008
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.11731843575419e-4
allele num: 8950
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.17e0

QD
type: SiteQuality
SIO_000300: 5.7e0

FS
type: SiteQuality
SIO_000300: 3.427e0

MQ
type: SiteQuality
SIO_000300: 5.654e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.715e0

MQRankSum
type: SiteQuality
SIO_000300: -5.105e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.133e0

DP
type: SiteQuality
SIO_000300: 1.794095e6

VQSLOD
type: SiteQuality
SIO_000300: -5.363e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.590988640341108e-5
allele num: 62854
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8924
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16018
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

DP
type: SiteQuality
SIO_000300: 1.794203e6

FS
type: SiteQuality
SIO_000300: 4.659e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.79e-1

QD
type: SiteQuality
SIO_000300: 1.384e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1129
bin: 7.5e0
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62958
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.212723658051689e-5
allele num: 16096
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8972
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.866e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.570000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.95e-1

FS
type: SiteQuality
SIO_000300: 1.43e0

DP
type: SiteQuality
SIO_000300: 1.796658e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.212e1

MQRankSum
type: SiteQuality
SIO_000300: 1.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.961e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.58553987632789e-5
allele num: 63070
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16198
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9004
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
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: 6608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.471e1

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.578e0

FS
type: SiteQuality
SIO_000300: 3.08e0

MQ
type: SiteQuality
SIO_000300: 5.9e1

VQSLOD
type: SiteQuality
SIO_000300: -2.62e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

DP
type: SiteQuality
SIO_000300: 1.80172e6

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.109490902174602e-4
allele num: 63092
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.177024482109228e-4
allele num: 8496
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.110864252388358e-4
allele num: 9002
num of homozygotes: 0

South Asian
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allele count: 7
allele frequency: 4.310875723611282e-4
allele num: 16238
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
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: 5.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.07e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

DP
type: SiteQuality
SIO_000300: 1.80266e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.465e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9024
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.584434515321482e-5
allele num: 63114
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16272
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.08e-1

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.276e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.42e-1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -2.65e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

DP
type: SiteQuality
SIO_000300: 1.802997e6

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9034
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63140
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.804786e6

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

Latino
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allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63154
num of homozygotes: 0

South Asian
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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
allele num: 8500
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African
type: Population
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allele frequency: 1.108647450110865e-4
allele num: 9020
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.177e0

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

FS
type: SiteQuality
SIO_000300: 6.473e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-2

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -5.925e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4498
bin: 7.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9080
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.726003490401397e-5
allele num: 11460
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63176
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.6e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.606e0

MQRankSum
type: SiteQuality
SIO_000300: -7.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.106e0

FS
type: SiteQuality
SIO_000300: 2.788e0

DP
type: SiteQuality
SIO_000300: 1.805973e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.269e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3174
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4461
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63108
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.221448638084768e-4
allele num: 16374
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9070
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -9.9e-1

MQ
type: SiteQuality
SIO_000300: 5.886e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

QD
type: SiteQuality
SIO_000300: 1.044e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

VQSLOD
type: SiteQuality
SIO_000300: -9.357e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

FS
type: SiteQuality
SIO_000300: 4.62e0

DP
type: SiteQuality
SIO_000300: 1.797442e6

GenotypeQuality
all individuals: 57
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26796
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.733624454148471e-5
allele num: 11450
num of homozygotes: 0

South Asian
type: Population
allele count: 35
allele frequency: 2.138057422113622e-3
allele num: 16370
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63108
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9074
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.744e0

VQSLOD
type: SiteQuality
SIO_000300: 2.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.14e-1

QD
type: SiteQuality
SIO_000300: 1.464e1

MQ
type: SiteQuality
SIO_000300: 5.828e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

DP
type: SiteQuality
SIO_000300: 1.795407e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.78e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3156
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 3.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8480
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.739730816290858e-5
allele num: 11442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63084
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9064
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16306
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 1.177e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

MQ
type: SiteQuality
SIO_000300: 5.649e1

DP
type: SiteQuality
SIO_000300: 1.790012e6

MQRankSum
type: SiteQuality
SIO_000300: -1.719e0

VQSLOD
type: SiteQuality
SIO_000300: 2.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e-1

FS
type: SiteQuality
SIO_000300: 3.502e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.23e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
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variant carriers: 0

GenotypeQuality
all individuals: 1321
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8480
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16306
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.747946163258172e-4
allele num: 11442
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.517450682852807e-4
allele num: 6590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 2.694819605605225e-4
allele num: 63084
num of homozygotes: 0

African
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allele count: 6
allele frequency: 6.619593998234775e-4
allele num: 9064
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.05e0

MQRankSum
type: SiteQuality
SIO_000300: -1.719e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 3.502e0

MQ
type: SiteQuality
SIO_000300: 5.649e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

DP
type: SiteQuality
SIO_000300: 1.790012e6

QD
type: SiteQuality
SIO_000300: 1.177e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62974
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9042
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.183431952662722e-4
allele num: 8450
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.699e1

DP
type: SiteQuality
SIO_000300: 1.76383e6

FS
type: SiteQuality
SIO_000300: 2.157e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

MQRankSum
type: SiteQuality
SIO_000300: 1.95e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

VQSLOD
type: SiteQuality
SIO_000300: -1.351e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.58e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3194
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4337
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16348
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.183712121212121e-4
allele num: 8448
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62990
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.107910480833149e-4
allele num: 9026
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -8.799999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: -9.360000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.62e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.82e0

QD
type: SiteQuality
SIO_000300: 1.668e1

DP
type: SiteQuality
SIO_000300: 1.762891e6

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4332
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 974
bin: 3.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8448
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9034
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.587553579933323e-5
allele num: 62990
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.47e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.435e0

DP
type: SiteQuality
SIO_000300: 1.758445e6

MQRankSum
type: SiteQuality
SIO_000300: 7.02e-1

QD
type: SiteQuality
SIO_000300: 1.49e1