12-49993652-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993652
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993652
    reference: chr 12
allele count: 15
allele frequency: 1.262817598626054e-4
allele num: 118782
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.610A>T
  hgvsp: ENSP00000436995.1:p.Arg204Trp
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+1138A>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1771A>T
  hgvsp: ENSP00000257894.2:p.Arg591Trp
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1501A>T
  hgvsp: ENSP00000438569.1:p.Arg501Trp
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.44T>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.530T>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4308T>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1777A>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22768T>A
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1956
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1821
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg591Trp
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

12-49993653-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993653
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993653
    reference: chr 12
allele count: 83
allele frequency: 6.985356000673287e-4
allele num: 118820
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22767C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.609G>A
  hgvsp: ENST00000532262.1:c.609G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4307C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1500G>A
  hgvsp: ENST00000544141.1:c.1500G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.531C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1770G>A
  hgvsp: ENST00000257894.2:c.1770G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+1137G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1776G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.45C>T
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5699
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31560
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14832
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1959
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37308
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2627
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg590Arg
num of homozygotes: 3
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-49993662-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993662
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993662
    reference: chr 12
allele count: 2
allele frequency: 1.683445001851789e-5
allele num: 118804
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1761C>G
  hgvsp: ENSP00000257894.2:p.His587Gln
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22758G>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+1128C>G
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4298G>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.600C>G
  hgvsp: ENSP00000436995.1:p.His200Gln
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.54G>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1491C>G
  hgvsp: ENSP00000438569.1:p.His497Gln
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1767C>G
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.540G>C
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37489
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His587Gln
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

12-49993664-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993664
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993664
    reference: chr 12
allele count: 20
allele frequency: 1.683388324018585e-4
allele num: 118808
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+1126C>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1759C>T
  hgvsp: ENSP00000257894.2:p.His587Tyr
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1765C>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1489C>T
  hgvsp: ENSP00000438569.1:p.His497Tyr
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.56G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.542G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22756G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.598C>T
  hgvsp: ENSP00000436995.1:p.His200Tyr
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4296G>A
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31627
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5713
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2627
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His587Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

12-49993674-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993674
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993674
    reference: chr 12
allele count: 2
allele frequency: 1.681491819542298e-5
allele num: 118942
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1755C>G
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.588C>G
  hgvsp: ENST00000532262.1:c.588C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.66G>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4286G>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1749C>G
  hgvsp: ENST00000257894.2:c.1749C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+1116C>G
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22746G>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1479C>G
  hgvsp: ENST00000544141.1:c.1479C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.552G>C
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1837
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2499
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2893
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr583Thr
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD

12-49993678-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993678
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993678
    reference: chr 12
allele count: 11407
allele frequency: 9.579757125820917e-2
allele num: 119074
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1751G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+1112G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1745G>A
  hgvsp: ENSP00000257894.2:p.Arg582Gln
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.556C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.70C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.584G>A
  hgvsp: ENSP00000436995.1:p.Arg195Gln
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4282C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1475G>A
  hgvsp: ENSP00000438569.1:p.Arg492Gln
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22742C>T
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 1.75e1
  variant carriers: 317
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 7.25e1
  variant carriers: 581
genotype depth: GenotypeDepth
  all individuals: 12799
  bin: 2.75e1
  variant carriers: 219
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 1.25e1
  variant carriers: 194
genotype depth: GenotypeDepth
  all individuals: 26397
  bin: 2.25e1
  variant carriers: 218
genotype depth: GenotypeDepth
  all individuals: 4863
  bin: 3.25e1
  variant carriers: 337
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.25e1
  variant carriers: 181
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 4.25e1
  variant carriers: 842
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 8.25e1
  variant carriers: 335
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 6.25e1
  variant carriers: 973
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 4.75e1
  variant carriers: 1128
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 7.75e1
  variant carriers: 471
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 3.75e1
  variant carriers: 545
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 9.75e1
  variant carriers: 1168
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 5.75e1
  variant carriers: 1103
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.75e1
  variant carriers: 257
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 7.5e0
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 5.25e1
  variant carriers: 1166
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 6.75e1
  variant carriers: 804
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.75e1
  variant carriers: 4
hgvs: p.Arg582Gln
num of homozygotes: 575
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: QD

12-49993679-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993679
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993679
    reference: chr 12
allele count: 3
allele frequency: 2.515976450460424e-5
allele num: 119238
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1474C>T
  hgvsp: ENSP00000438569.1:p.Arg492Trp
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4281G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+1111C>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.583C>T
  hgvsp: ENSP00000436995.1:p.Arg195Trp
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1750C>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22741G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.557G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1744C>T
  hgvsp: ENSP00000257894.2:p.Arg582Trp
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.71G>A
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4788
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1676
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg582Trp
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

12-49993682-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993682
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993682
    reference: chr 12
allele count: 6
allele frequency: 5.026641198351262e-5
allele num: 119364
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1747A>G
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4278T>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.74T>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1471A>G
  hgvsp: ENSP00000438569.1:p.Ser491Gly
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+1108A>G
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1741A>G
  hgvsp: ENSP00000257894.2:p.Ser581Gly
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22738T>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.560T>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.580A>G
  hgvsp: ENSP00000436995.1:p.Ser194Gly
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6611
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2437
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser581Gly
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/12-49993694-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993694
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993694
    reference: chr 12
allele count: 1
allele frequency: 8.358967500334358e-6
allele num: 119632
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.568G>T
  hgvsp: ENSP00000436995.1:p.Val190Leu
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4266C>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1729G>T
  hgvsp: ENSP00000257894.2:p.Val577Leu
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22726C>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.572C>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1459G>T
  hgvsp: ENSP00000438569.1:p.Val487Leu
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.86C>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1735G>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+1096G>T
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15699
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1755
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4788
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val577Leu
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

12-49993694-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993694
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993694
    reference: chr 12
allele count: 9
allele frequency: 7.523070750300923e-5
allele num: 119632
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.572C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+1096G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1459G>A
  hgvsp: ENSP00000438569.1:p.Val487Met
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.568G>A
  hgvsp: ENSP00000436995.1:p.Val190Met
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1729G>A
  hgvsp: ENSP00000257894.2:p.Val577Met
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.86C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1735G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4266C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22726C>T
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15699
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6866
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val577Met
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ

12-49993695-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993695
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993695
    reference: chr 12
allele count: 1
allele frequency: 8.354358468813179e-6
allele num: 119698
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4265T>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.87T>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22725T>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1458A>T
  hgvsp: ENSP00000438569.1:p.Leu486Phe
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+1095A>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1728A>T
  hgvsp: ENSP00000257894.2:p.Leu576Phe
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.567A>T
  hgvsp: ENSP00000436995.1:p.Leu189Phe
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.573T>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1734A>T
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2714
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4783
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu576Phe
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

12-49993700-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993700
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993700
    reference: chr 12
allele count: 1
allele frequency: 8.345573507811457e-6
allele num: 119824
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4260A>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1729T>C
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+1090T>C
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.578A>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1723T>C
  hgvsp: ENSP00000257894.2:p.Ser575Pro
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22720A>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.562T>C
  hgvsp: ENSP00000436995.1:p.Ser188Pro
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1453T>C
  hgvsp: ENSP00000438569.1:p.Ser485Pro
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.92A>G
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28218
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4786
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser575Pro
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

12-49993701-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993701
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993701
    reference: chr 12
allele count: 3
allele frequency: 2.50325423049965e-5
allele num: 119844
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1722A>G
  hgvsp: ENST00000257894.2:c.1722A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.93T>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.579T>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1728A>G
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1452A>G
  hgvsp: ENST00000544141.1:c.1452A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4259T>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.561A>G
  hgvsp: ENST00000532262.1:c.561A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+1089A>G
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22719T>C
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15830
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28234
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu574Leu
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

12-49993719-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993719
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993719
    reference: chr 12
allele count: 1
allele frequency: 8.306337735692333e-6
allele num: 120390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22701G>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1434C>G
  hgvsp: ENSP00000438569.1:p.Asp478Glu
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.597G>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1710C>G
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.111G>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+1071C>G
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.543C>G
  hgvsp: ENSP00000436995.1:p.Asp181Glu
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1704C>G
  hgvsp: ENSP00000257894.2:p.Asp568Glu
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4241G>C
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1791
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp568Glu
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD

12-49993720-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993720
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993720
    reference: chr 12
allele count: 2
allele frequency: 1.661239949498306e-5
allele num: 120392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+1070A>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1709A>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22700T>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.598T>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.542A>T
  hgvsp: ENSP00000436995.1:p.Asp181Val
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1433A>T
  hgvsp: ENSP00000438569.1:p.Asp478Val
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1703A>T
  hgvsp: ENSP00000257894.2:p.Asp568Val
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4240T>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.112T>A
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28804
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp568Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

12-49993727-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993727
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993727
    reference: chr 12
allele count: 2
allele frequency: 1.659613310098747e-5
allele num: 120510
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1696T>C
  hgvsp: ENSP00000257894.2:p.Trp566Arg
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4233A>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1426T>C
  hgvsp: ENSP00000438569.1:p.Trp476Arg
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+1063T>C
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1702T>C
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22693A>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.119A>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.535T>C
  hgvsp: ENSP00000436995.1:p.Trp179Arg
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.605A>G
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16311
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6775
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4799
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Trp566Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum

12-49993729-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993729
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993729
    reference: chr 12
allele count: 15
allele frequency: 1.24470998257406e-4
allele num: 120510
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1424G>A
  hgvsp: ENSP00000438569.1:p.Arg475Gln
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4231C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22691C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.121C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1700G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.533G>A
  hgvsp: ENSP00000436995.1:p.Arg178Gln
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1694G>A
  hgvsp: ENSP00000257894.2:p.Arg565Gln
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.607C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+1061G>A
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16317
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6792
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg565Gln
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

12-49993730-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993730
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993730
    reference: chr 12
allele count: 1
allele frequency: 8.296964970213896e-6
allele num: 120526
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1699C>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1693C>T
  hgvsp: ENSP00000257894.2:p.Arg565Ter
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4230G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+1060C>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22690G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.122G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.532C>T
  hgvsp: ENSP00000436995.1:p.Arg178Ter
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1423C>T
  hgvsp: ENSP00000438569.1:p.Arg475Ter
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.608G>A
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 28790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6788
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2772
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg565Ter
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

12-49993736-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993736
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993736
    reference: chr 12
allele count: 2
allele frequency: 1.65892501658925e-5
allele num: 120560
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1693A>G
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+1054A>G
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1687A>G
  hgvsp: ENSP00000257894.2:p.Thr563Ala
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.614T>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.526A>G
  hgvsp: ENSP00000436995.1:p.Thr176Ala
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4224T>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1417A>G
  hgvsp: ENSP00000438569.1:p.Thr473Ala
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.128T>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22684T>C
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr563Ala
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

12-49993738-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993738
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993738
    reference: chr 12
allele count: 2
allele frequency: 1.658842459731599e-5
allele num: 120566
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.524C>A
  hgvsp: ENSP00000436995.1:p.Pro175His
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1415C>A
  hgvsp: ENSP00000438569.1:p.Pro472His
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1691C>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+1052C>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1685C>A
  hgvsp: ENSP00000257894.2:p.Pro562His
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22682G>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.130G>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.616G>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4222G>T
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28745
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6812
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2779
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1805
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro562His
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

12-49993739-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993739
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993739
    reference: chr 12
allele count: 15
allele frequency: 1.244152483328357e-4
allele num: 120564
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22681G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1684C>T
  hgvsp: ENSP00000257894.2:p.Pro562Ser
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1690C>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4221G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+1051C>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.617G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.523C>T
  hgvsp: ENSP00000436995.1:p.Pro175Ser
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1414C>T
  hgvsp: ENSP00000438569.1:p.Pro472Ser
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.131G>A
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7083
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro562Ser
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ

12-49993742-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993742
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993742
    reference: chr 12
allele count: 2
allele frequency: 1.659035105182826e-5
allele num: 120552
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.520A>T
  hgvsp: ENSP00000436995.1:p.Thr174Ser
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1687A>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.620T>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4218T>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+1048A>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1681A>T
  hgvsp: ENSP00000257894.2:p.Thr561Ser
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.134T>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1411A>T
  hgvsp: ENSP00000438569.1:p.Thr471Ser
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22678T>A
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6816
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4809
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr561Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-49993743-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993743
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993742
    reference: chr 12
allele count: 1
allele frequency: 8.295588406085643e-6
allele num: 120546
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+1046delT
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.518delT
  hgvsp: ENSP00000436995.1:p.Phe173SerfsTer17
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.623delA
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1679delT
  hgvsp: ENSP00000257894.2:p.Phe560SerfsTer17
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1685delT
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22675delA
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1409delT
  hgvsp: ENSP00000438569.1:p.Phe470SerfsTer17
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.137delA
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4215delA
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2494
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Phe560SerfsTer17
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: GA
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

12-49993764-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993764
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993764
    reference: chr 12
allele count: 1
allele frequency: 8.319467554076538e-6
allele num: 120200
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22656C>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.498G>C
  hgvsp: ENSP00000436995.1:p.Glu166Asp
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+1026G>C
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1665G>C
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.642C>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4196C>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1389G>C
  hgvsp: ENSP00000438569.1:p.Glu463Asp
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.156C>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1659G>C
  hgvsp: ENSP00000257894.2:p.Glu553Asp
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6842
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37552
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6993
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4814
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu553Asp
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

12-49993766-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993766
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993766
    reference: chr 12
allele count: 4945
allele frequency: 4.113908254438362e-2
allele num: 120202
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.158C>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1657G>C
  hgvsp: ENSP00000257894.2:p.Glu553Gln
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.644C>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4194C>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1387G>C
  hgvsp: ENSP00000438569.1:p.Glu463Gln
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.496G>C
  hgvsp: ENSP00000436995.1:p.Glu166Gln
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1663G>C
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+1024G>C
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22654C>G
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 1.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 8.25e1
  variant carriers: 262
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.25e1
  variant carriers: 372
genotype depth: GenotypeDepth
  all individuals: 25865
  bin: 2.25e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 1.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 5.75e1
  variant carriers: 370
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 3.75e1
  variant carriers: 121
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 161
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.25e1
  variant carriers: 377
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 5.25e1
  variant carriers: 328
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 9.75e1
  variant carriers: 913
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.75e1
  variant carriers: 316
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.75e1
  variant carriers: 238
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 4.75e1
  variant carriers: 230
genotype depth: GenotypeDepth
  all individuals: 15505
  bin: 2.75e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 6354
  bin: 3.25e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 4.25e1
  variant carriers: 151
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 6.75e1
  variant carriers: 391
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu553Gln
num of homozygotes: 417
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

12-49993784-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993784
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993784
    reference: chr 12
allele count: 1
allele frequency: 8.365960579593749e-6
allele num: 119532
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1639G>C
  hgvsp: ENSP00000257894.2:p.Glu547Gln
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4176C>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.662C>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.176C>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+1006G>C
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1369G>C
  hgvsp: ENSP00000438569.1:p.Glu457Gln
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1645G>C
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.478G>C
  hgvsp: ENSP00000436995.1:p.Glu160Gln
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22636C>G
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15543
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6696
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu547Gln
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD

12-49993789-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993789
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993789
    reference: chr 12
allele count: 13
allele frequency: 1.089507207509219e-4
allele num: 119320
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1634G>A
  hgvsp: ENSP00000257894.2:p.Arg545Gln
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1364G>A
  hgvsp: ENSP00000438569.1:p.Arg455Gln
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.473G>A
  hgvsp: ENSP00000436995.1:p.Arg158Gln
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22631C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.181C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.667C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+1001G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1640G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4171C>T
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15407
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6570
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg545Gln
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

12-49993790-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993790
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993790
    reference: chr 12
allele count: 3
allele frequency: 2.514500284976699e-5
allele num: 119308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.182G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22630G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1633C>T
  hgvsp: ENSP00000257894.2:p.Arg545Trp
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1363C>T
  hgvsp: ENSP00000438569.1:p.Arg455Trp
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4170G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1639C>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.472C>T
  hgvsp: ENSP00000436995.1:p.Arg158Trp
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+1000C>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.668G>A
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24721
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2066
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2387
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg545Trp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

12-49993792-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993792
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993792
    reference: chr 12
allele count: 1
allele frequency: 8.389543273264204e-6
allele num: 119196
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+998C>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.470C>T
  hgvsp: ENSP00000436995.1:p.Pro157Leu
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4168G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.670G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1361C>T
  hgvsp: ENSP00000438569.1:p.Pro454Leu
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1637C>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22628G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1631C>T
  hgvsp: ENSP00000257894.2:p.Pro544Leu
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.184G>A
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15300
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2087
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro544Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

12-49993802-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993802
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993802
    reference: chr 12
allele count: 3
allele frequency: 2.524487529031606e-5
allele num: 118836
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.680G>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1627C>G
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22618G>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1351C>G
  hgvsp: ENSP00000438569.1:p.Gln451Glu
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.194G>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4158G>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.460C>G
  hgvsp: ENSP00000436995.1:p.Gln154Glu
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1621C>G
  hgvsp: ENSP00000257894.2:p.Gln541Glu
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+988C>G
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24489
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln541Glu
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

12-49993809-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993809
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993809
    reference: chr 12
allele count: 1
allele frequency: 8.426303549159055e-6
allele num: 118676
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.453A>C
  hgvsp: ENSP00000436995.1:p.Glu151Asp
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1620A>C
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22611T>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.687T>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+981A>C
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4151T>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.201T>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1614A>C
  hgvsp: ENSP00000257894.2:p.Glu538Asp
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1344A>C
  hgvsp: ENSP00000438569.1:p.Glu448Asp
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6642
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2629
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6364
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34123
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu538Asp
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

12-49993816-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993816
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993816
    reference: chr 12
allele count: 1
allele frequency: 8.441810599537389e-6
allele num: 118458
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22604T>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+974A>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.208T>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.694T>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1607A>T
  hgvsp: ENSP00000257894.2:p.Gln536Leu
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.446A>T
  hgvsp: ENSP00000436995.1:p.Gln149Leu
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1613A>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4144T>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1337A>T
  hgvsp: ENSP00000438569.1:p.Gln446Leu
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6367
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34071
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln536Leu
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: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ

12-49993816-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993816
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993816
    reference: chr 12
allele count: 3
allele frequency: 2.532543179861217e-5
allele num: 118458
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4144T>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22604T>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.694T>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+974A>G
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.208T>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1607A>G
  hgvsp: ENSP00000257894.2:p.Gln536Arg
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1337A>G
  hgvsp: ENSP00000438569.1:p.Gln446Arg
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.446A>G
  hgvsp: ENSP00000436995.1:p.Gln149Arg
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1613A>G
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6499
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1711
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln536Arg
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP

12-49993818-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993818
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993818
    reference: chr 12
allele count: 2
allele frequency: 1.689160656069999e-5
allele num: 118402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1335C>T
  hgvsp: ENST00000544141.1:c.1335C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1605C>T
  hgvsp: ENST00000257894.2:c.1605C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.696G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1611C>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.210G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22602G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.444C>T
  hgvsp: ENST00000532262.1:c.444C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4142G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+972C>T
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2388
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val535Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/12-49993819-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993819
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993818
    reference: chr 12
allele count: 98
allele frequency: 8.277726159303995e-4
allele num: 118390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1609delG
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1333delG
  hgvsp: ENSP00000438569.1:p.Val445SerfsTer3
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.700delC
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+970delG
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22598delC
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4138delC
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1603delG
  hgvsp: ENSP00000257894.2:p.Val535SerfsTer3
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.442delG
  hgvsp: ENSP00000436995.1:p.Val148SerfsTer3
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.214delC
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 24287
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 2352
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val535SerfsTer3
num of homozygotes: 1
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: AC
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

12-49993820-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993820
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993820
    reference: chr 12
allele count: 1
allele frequency: 8.466110161025414e-6
allele num: 118118
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1609G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22600C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.442G>A
  hgvsp: ENSP00000436995.1:p.Val148Ile
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1333G>A
  hgvsp: ENSP00000438569.1:p.Val445Ile
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4140C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.698C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1603G>A
  hgvsp: ENSP00000257894.2:p.Val535Ile
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+970G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.212C>T
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6636
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14960
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val535Ile
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

12-49993824-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993824
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993824
    reference: chr 12
allele count: 1
allele frequency: 8.447943770486263e-6
allele num: 118372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4136T>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1599A>T
  hgvsp: ENSP00000257894.2:p.Arg533Ser
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.702T>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1329A>T
  hgvsp: ENSP00000438569.1:p.Arg443Ser
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.216T>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22596T>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1605A>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.438A>T
  hgvsp: ENSP00000436995.1:p.Arg146Ser
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+966A>T
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24226
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2631
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33917
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg533Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

12-49993828-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993828
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993829
    reference: chr 12
allele count: 1
allele frequency: 8.454371755634839e-6
allele num: 118282
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.220_221insT
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1600_*1601insA
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22592_-161-22591insT
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1594_1595insA
  hgvsp: ENSP00000257894.2:p.Arg532GlnfsTer68
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1324_1325insA
  hgvsp: ENSP00000438569.1:p.Arg442GlnfsTer68
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.433_434insA
  hgvsp: ENSP00000436995.1:p.Arg145GlnfsTer68
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4132_188-4131insT
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.706_707insT
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+961_633+962insA
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2293
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg532GlnfsTer68
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum

12-49993828-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993828
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993828
    reference: chr 12
allele count: 5
allele frequency: 4.227185877817419e-5
allele num: 118282
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.706C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4132C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1595G>A
  hgvsp: ENSP00000257894.2:p.Arg532Gln
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.434G>A
  hgvsp: ENSP00000436995.1:p.Arg145Gln
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1325G>A
  hgvsp: ENSP00000438569.1:p.Arg442Gln
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22592C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1601G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.220C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+962G>A
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2377
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg532Gln
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-49993829-G-GGATGTCCCAGTGACAGGAAAGGAGGCAGATTTCTTGGGCTTTGTGGGAACTCGGCGGGTCCGTGGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993829
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993895
    reference: chr 12
allele count: 1
allele frequency: 8.457660949287865e-6
allele num: 118236
alternate allele: GGATGTCCCAGTGACAGGAAAGGAGGCAGATTTCTTGGGCTTTGTGGGAACTCGGCGGGTCCGTGGT
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6496
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33980
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2378
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

12-49993831-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993831
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993831
    reference: chr 12
allele count: 1
allele frequency: 8.453514125822104e-6
allele num: 118294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1322A>T
  hgvsp: ENSP00000438569.1:p.Gln441Leu
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+959A>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22589T>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.223T>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1598A>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.709T>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.431A>T
  hgvsp: ENSP00000436995.1:p.Gln144Leu
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1592A>T
  hgvsp: ENSP00000257894.2:p.Gln531Leu
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4129T>A
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33893
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1708
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln531Leu
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-49993835-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993835
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993835
    reference: chr 12
allele count: 1
allele frequency: 8.459664320519762e-6
allele num: 118208
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.713G>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.427C>G
  hgvsp: ENSP00000436995.1:p.Gln143Glu
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.227G>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1588C>G
  hgvsp: ENSP00000257894.2:p.Gln530Glu
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4125G>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1594C>G
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1318C>G
  hgvsp: ENSP00000438569.1:p.Gln440Glu
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22585G>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+955C>G
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6645
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1708
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33967
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln530Glu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-49993855-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993855
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993855
    reference: chr 12
allele count: 1
allele frequency: 8.445517963616709e-6
allele num: 118406
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1568T>C
  hgvsp: ENSP00000257894.2:p.Leu523Pro
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+935T>C
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.407T>C
  hgvsp: ENSP00000436995.1:p.Leu136Pro
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1574T>C
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22565A>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1298T>C
  hgvsp: ENSP00000438569.1:p.Leu433Pro
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4105A>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.733A>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.247A>G
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2628
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu523Pro
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

12-49993861-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993861
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993861
    reference: chr 12
allele count: 3
allele frequency: 2.531773760696744e-5
allele num: 118494
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1568G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1292G>A
  hgvsp: ENSP00000438569.1:p.Trp431Ter
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4099C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22559C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.253C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+929G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.401G>A
  hgvsp: ENSP00000436995.1:p.Trp134Ter
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.739C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1562G>A
  hgvsp: ENSP00000257894.2:p.Trp521Ter
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Trp521Ter
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

12-49993867-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993867
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993867
    reference: chr 12
allele count: 3
allele frequency: 2.528572873470214e-5
allele num: 118644
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.745C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.395G>A
  hgvsp: ENSP00000436995.1:p.Arg132Gln
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+923G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4093C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1562G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1286G>A
  hgvsp: ENSP00000438569.1:p.Arg429Gln
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22553C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1556G>A
  hgvsp: ENSP00000257894.2:p.Arg519Gln
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.259C>T
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2382
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2637
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg519Gln
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

12-49993868-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993868
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993868
    reference: chr 12
allele count: 1
allele frequency: 8.422187410514259e-6
allele num: 118734
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22552G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1561C>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.260G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.394C>T
  hgvsp: ENSP00000436995.1:p.Arg132Trp
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1285C>T
  hgvsp: ENSP00000438569.1:p.Arg429Trp
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4092G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1555C>T
  hgvsp: ENSP00000257894.2:p.Arg519Trp
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+922C>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.746G>A
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24947
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2387
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2068
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34500
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg519Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

12-49993886-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993886
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993886
    reference: chr 12
allele count: 1
allele frequency: 8.374788536589452e-6
allele num: 119406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4074C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+904G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1537G>A
  hgvsp: ENSP00000257894.2:p.Glu513Lys
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.376G>A
  hgvsp: ENSP00000436995.1:p.Glu126Lys
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1543G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22534C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1267G>A
  hgvsp: ENSP00000438569.1:p.Glu423Lys
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.278C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.764C>T
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2647
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6555
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu513Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-49993904-ACTT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993904
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993901
    reference: chr 12
allele count: 19
allele frequency: 1.583940510529036e-4
allele num: 119954
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1246_1248delAAG
  hgvsp: ENSP00000438569.1:p.Lys416del
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4050_188-4048delTCT
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1516_1518delAAG
  hgvsp: ENSP00000257894.2:p.Lys506del
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22510_-161-22508delTCT
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.355_357delAAG
  hgvsp: ENSP00000436995.1:p.Lys119del
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.788_790delTCT
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1522_*1524delAAG
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.302_304delTCT
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+883_633+885delAAG
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 26497
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6483
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35831
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys506del
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
reference allele: ACTT
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/12-49993915-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993915
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993915
    reference: chr 12
allele count: 2
allele frequency: 1.666305633779348e-5
allele num: 120026
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22505C>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.347G>T
  hgvsp: ENSP00000436995.1:p.Arg116Leu
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.307C>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1238G>T
  hgvsp: ENSP00000438569.1:p.Arg413Leu
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.793C>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1508G>T
  hgvsp: ENSP00000257894.2:p.Arg503Leu
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+875G>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1514G>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4045C>A
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6404
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6392
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 35718
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg503Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

12-49993915-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993915
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993915
    reference: chr 12
allele count: 1
allele frequency: 8.33152816889674e-6
allele num: 120026
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.307C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.347G>A
  hgvsp: ENSP00000436995.1:p.Arg116Gln
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1238G>A
  hgvsp: ENSP00000438569.1:p.Arg413Gln
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22505C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1514G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1508G>A
  hgvsp: ENSP00000257894.2:p.Arg503Gln
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+875G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.793C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4045C>T
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6404
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6392
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35718
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg503Gln
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD

12-49993916-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993916
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993916
    reference: chr 12
allele count: 1
allele frequency: 8.327781479013991e-6
allele num: 120080
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.346C>G
  hgvsp: ENSP00000436995.1:p.Arg116Gly
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1237C>G
  hgvsp: ENSP00000438569.1:p.Arg413Gly
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.308G>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1513C>G
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.794G>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4044G>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+874C>G
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1507C>G
  hgvsp: ENSP00000257894.2:p.Arg503Gly
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22504G>C
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26688
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg503Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum

12-49993918-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993918
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993918
    reference: chr 12
allele count: 3
allele frequency: 2.496338703235255e-5
allele num: 120176
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.344A>G
  hgvsp: ENSP00000436995.1:p.Gln115Arg
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1235A>G
  hgvsp: ENSP00000438569.1:p.Gln412Arg
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4042T>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+872A>G
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22502T>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000547764
  gene symbol: PRPF40B
  hgvsc: ENST00000547764.1:n.796T>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1505A>G
  hgvsp: ENSP00000257894.2:p.Gln502Arg
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.310T>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1511A>G
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6404
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26765
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35820
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln502Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

12-49993925-ACATCTCCT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993925
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993917
    reference: chr 12
allele count: 1
allele frequency: 8.30923654734603e-6
allele num: 120348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.329_336delAGGAGATG
  hgvsp: ENSP00000436995.1:p.Glu110ValfsTer100
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsp: ENSP00000257894.2:p.Glu497ValfsTer100
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsp: ENSP00000438569.1:p.Glu407ValfsTer100
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.319_326delATCTCCTC
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2319
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36245
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu497ValfsTer100
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: ACATCTCCT
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

12-49993928-T-TATC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993928
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993931
    reference: chr 12
allele count: 6
allele frequency: 4.989936960463066e-5
allele num: 120242
alternate allele: TATC
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1500_*1501insGAT
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.333_334insGAT
  hgvsp: ENSP00000436995.1:p.Glu111_Met112insAsp
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.320_321insATC
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+861_633+862insGAT
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1224_1225insGAT
  hgvsp: ENSP00000438569.1:p.Glu408_Met409insAsp
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1494_1495insGAT
  hgvsp: ENSP00000257894.2:p.Glu498_Met499insAsp
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22492_-161-22491insATC
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4032_188-4031insATC
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26751
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6564
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35845
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu498_Met499insAsp
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

12-49993928-TCTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993928
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993925
    reference: chr 12
allele count: 5
allele frequency: 4.158280800385889e-5
allele num: 120242
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1498_*1500delGAG
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.331_333delTCC
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+859_633+861delGAG
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1492_1494delGAG
  hgvsp: ENSP00000257894.2:p.Glu498del
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1222_1224delGAG
  hgvsp: ENSP00000438569.1:p.Glu408del
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22481_-161-22479delTCC
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.331_333delGAG
  hgvsp: ENSP00000436995.1:p.Glu111del
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4021_188-4019delTCC
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15315
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6471
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2380
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35845
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6403
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Glu498del
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: TCTC
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-49993932-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993932
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993932
    reference: chr 12
allele count: 1
allele frequency: 8.316146630297385e-6
allele num: 120248
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.330G>A
  hgvsp: ENST00000532262.1:c.330G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+858G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.324C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4028C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1221G>A
  hgvsp: ENST00000544141.1:c.1221G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1491G>A
  hgvsp: ENST00000257894.2:c.1491G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1497G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22488C>T
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2650
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35644
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu497Glu
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

12-49993933-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993933
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993933
    reference: chr 12
allele count: 1
allele frequency: 8.332638946754437e-6
allele num: 120010
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22487T>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1490A>G
  hgvsp: ENSP00000257894.2:p.Glu497Gly
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1496A>G
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+857A>G
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4027T>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.329A>G
  hgvsp: ENSP00000436995.1:p.Glu110Gly
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1220A>G
  hgvsp: ENSP00000438569.1:p.Glu407Gly
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.325T>C
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26630
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2650
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2377
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu497Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

12-49993934-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993934
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993934
    reference: chr 12
allele count: 1
allele frequency: 8.303716743614441e-6
allele num: 120428
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1219G>A
  hgvsp: ENSP00000438569.1:p.Glu407Lys
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1489G>A
  hgvsp: ENSP00000257894.2:p.Glu497Lys
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22486C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.328G>A
  hgvsp: ENSP00000436995.1:p.Glu110Lys
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.326C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4026C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+856G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1495G>A
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26547
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6503
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu497Lys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-49993936-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993936
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993936
    reference: chr 12
allele count: 1
allele frequency: 8.556955093099671e-6
allele num: 116864
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.326A>G
  hgvsp: ENSP00000436995.1:p.Glu109Gly
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+854A>G
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1487A>G
  hgvsp: ENSP00000257894.2:p.Glu496Gly
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1217A>G
  hgvsp: ENSP00000438569.1:p.Glu406Gly
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4024T>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22484T>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.328T>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1493A>G
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15043
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2274
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1575
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu496Gly
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

12-49993939-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993939
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993939
    reference: chr 12
allele count: 14
allele frequency: 1.275696165621811e-4
allele num: 109744
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.323A>G
  hgvsp: ENSP00000436995.1:p.Glu108Gly
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.331T>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1490A>G
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1214A>G
  hgvsp: ENSP00000438569.1:p.Glu405Gly
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1484A>G
  hgvsp: ENSP00000257894.2:p.Glu495Gly
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+851A>G
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22481T>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4021T>C
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5951
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5171
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2210
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu495Gly
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

12-49993941-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993941
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993941
    reference: chr 12
allele count: 1
allele frequency: 8.292011476143882e-6
allele num: 120598
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.333C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+849G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.321G>A
  hgvsp: ENST00000532262.1:c.321G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1482G>A
  hgvsp: ENST00000257894.2:c.1482G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1212G>A
  hgvsp: ENST00000544141.1:c.1212G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22479C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4019C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1488G>A
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5981
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25519
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu494Leu
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

12-49993951-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993951
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993952
    reference: chr 12
allele count: 2
allele frequency: 1.657852417977751e-5
allele num: 120638
alternate allele: TG
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1471dupC
  hgvsp: ENSP00000257894.2:p.Gln491ProfsTer109
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1477dupC
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+838dupC
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22468dupG
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.310dupC
  hgvsp: ENSP00000436995.1:p.Gln104ProfsTer109
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4008dupG
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1201dupC
  hgvsp: ENSP00000438569.1:p.Gln401ProfsTer109
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.344dupG
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln491ProfsTer109
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

12-49993952-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993952
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993952
    reference: chr 12
allele count: 1
allele frequency: 8.290499088045101e-6
allele num: 120620
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1477C>G
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1201C>G
  hgvsp: ENSP00000438569.1:p.Gln401Glu
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4008G>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1471C>G
  hgvsp: ENSP00000257894.2:p.Gln491Glu
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22468G>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.344G>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+838C>G
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.310C>G
  hgvsp: ENSP00000436995.1:p.Gln104Glu
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1633
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6263
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln491Glu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-49993957-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993957
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993957
    reference: chr 12
allele count: 3
allele frequency: 2.486737400530504e-5
allele num: 120640
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.305G>A
  hgvsp: ENSP00000436995.1:p.Arg102Gln
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1196G>A
  hgvsp: ENSP00000438569.1:p.Arg399Gln
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+833G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1466G>A
  hgvsp: ENSP00000257894.2:p.Arg489Gln
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.349C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1472G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4003C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22463C>T
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25286
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34576
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6218
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8780
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2237
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg489Gln
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum

12-49993958-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993958
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993958
    reference: chr 12
allele count: 5
allele frequency: 4.14586822772425e-5
allele num: 120602
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22462G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.304C>T
  hgvsp: ENSP00000436995.1:p.Arg102Trp
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1465C>T
  hgvsp: ENSP00000257894.2:p.Arg489Trp
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.350G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1195C>T
  hgvsp: ENSP00000438569.1:p.Arg399Trp
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1471C>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+832C>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-4002G>A
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5980
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2238
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34457
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg489Trp
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

12-49993966-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993966
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993966
    reference: chr 12
allele count: 1
allele frequency: 8.288849839196314e-6
allele num: 120644
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1187G>C
  hgvsp: ENSP00000438569.1:p.Arg396Pro
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1457G>C
  hgvsp: ENSP00000257894.2:p.Arg486Pro
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+824G>C
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.358C>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.296G>C
  hgvsp: ENSP00000436995.1:p.Arg99Pro
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1463G>C
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22454C>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3994C>G
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5979
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34220
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6180
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg486Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD

12-49993966-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993966
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993966
    reference: chr 12
allele count: 17
allele frequency: 1.409104472663373e-4
allele num: 120644
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1463G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1187G>A
  hgvsp: ENSP00000438569.1:p.Arg396Gln
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22454C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3994C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.296G>A
  hgvsp: ENSP00000436995.1:p.Arg99Gln
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.358C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1457G>A
  hgvsp: ENSP00000257894.2:p.Arg486Gln
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+824G>A
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14711
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5979
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1633
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2424
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6180
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg486Gln
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-49993967-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993967
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993967
    reference: chr 12
allele count: 4
allele frequency: 3.315320094155091e-5
allele num: 120652
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.359G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+823C>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.295C>T
  hgvsp: ENSP00000436995.1:p.Arg99Trp
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1186C>T
  hgvsp: ENSP00000438569.1:p.Arg396Trp
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3993G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1462C>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1456C>T
  hgvsp: ENSP00000257894.2:p.Arg486Trp
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22453G>A
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25159
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14765
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2243
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg486Trp
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ

12-49993970-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993970
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993970
    reference: chr 12
allele count: 2
allele frequency: 1.657110661849998e-5
allele num: 120692
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22450C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1453G>A
  hgvsp: ENSP00000257894.2:p.Gly485Ser
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.292G>A
  hgvsp: ENSP00000436995.1:p.Gly98Ser
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1459G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.362C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3990C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1183G>A
  hgvsp: ENSP00000438569.1:p.Gly395Ser
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+820G>A
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25119
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8792
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34394
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly485Ser
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-49993971-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49993971
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49993971
    reference: chr 12
allele count: 8
allele frequency: 6.630860022544923e-5
allele num: 120648
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000436995
  ensembl transcript: ENST00000532262
  gene symbol: FAM186B
  hgvsc: ENST00000532262.1:c.291C>T
  hgvsp: ENST00000532262.1:c.291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*1458C>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.1182C>T
  hgvsp: ENST00000544141.1:c.1182C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.1452C>T
  hgvsp: ENST00000257894.2:c.1452C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-22449G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+819C>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.363G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3989G>A
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5950
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2239
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34644
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6208
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Phe484Phe
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 92
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 792
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2490
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 93
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2888
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37324
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 871
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7056
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2630
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
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: 14634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.119606358819076e-4
allele num: 66050
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.632055480639569e-5
allele num: 10382
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: 8652
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.514808e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.328e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-2

QD
type: SiteQuality
SIO_000300: 1.32e1

VQSLOD
type: SiteQuality
SIO_000300: 4.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.79e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

GenotypeQuality
all individuals: 91
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 123
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2885
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 89
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1821
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 780
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 106
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 782
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 772
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2552
bin: 9.75e1
variant carriers: 74

GenotypeQuality
all individuals: 870
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7046
bin: 6.75e1
variant carriers: 1

Other
type: Population
allele count: 1
allele frequency: 1.126126126126126e-3
allele num: 888
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.63020030816641e-5
allele num: 10384
num of homozygotes: 0

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

South Asian
type: Population
allele count: 81
allele frequency: 5.519967289082731e-3
allele num: 14674
num of homozygotes: 3

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66046
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

DP
type: SiteQuality
SIO_000300: 1.516417e6

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 1.4e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.488e0

MQRankSum
type: SiteQuality
SIO_000300: -1.64e-1

FS
type: SiteQuality
SIO_000300: 5.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.75e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.06e-1

GenotypeQuality
all individuals: 478
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7061
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1978
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2888
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1822
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 758
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2491
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 86
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2626
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66054
num of homozygotes: 0

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

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

African
type: Population
allele count: 2
allele frequency: 1.926040061633282e-4
allele num: 10384
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14664
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 9.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.16e-1

QD
type: SiteQuality
SIO_000300: 1.493e1

VQSLOD
type: SiteQuality
SIO_000300: -2.705e-1

FS
type: SiteQuality
SIO_000300: 1.264e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e0

MQ
type: SiteQuality
SIO_000300: 5.72e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

DP
type: SiteQuality
SIO_000300: 1.516428e6

GenotypeQuality
all individuals: 2888
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7059
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1824
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37387
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1965
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 761
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 874
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2510
bin: 9.75e1
variant carriers: 20

GenotypeQuality
all individuals: 485
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 2.876173175900696e-4
allele num: 66060
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.632055480639569e-5
allele num: 10382
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14664
num of homozygotes: 0

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

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: 8650
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.517679e6

VQSLOD
type: SiteQuality
SIO_000300: 2.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.742e0

MQRankSum
type: SiteQuality
SIO_000300: -1.09e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.3e-2

MQ
type: SiteQuality
SIO_000300: 5.949e1

QD
type: SiteQuality
SIO_000300: 1.282e1

GenotypeQuality
all individuals: 1820
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 776
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7051
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 37313
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2629
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.35666802333469e-4
allele num: 14742
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
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: 11564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66104
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

MQRankSum
type: SiteQuality
SIO_000300: 5.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.52e-1

FS
type: SiteQuality
SIO_000300: 2.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

DP
type: SiteQuality
SIO_000300: 1.519661e6

QD
type: SiteQuality
SIO_000300: 1.186e1

GenotypeQuality
all individuals: 1546
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12414
bin: 9.75e1
variant carriers: 10719

GenotypeQuality
all individuals: 64
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1316
bin: 8.25e1
variant carriers: 16

GenotypeQuality
all individuals: 575
bin: 2.75e1
variant carriers: 5

GenotypeQuality
all individuals: 627
bin: 9.25e1
variant carriers: 18

GenotypeQuality
all individuals: 59
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 615
bin: 3.25e1
variant carriers: 8

GenotypeQuality
all individuals: 392
bin: 3.75e1
variant carriers: 10

GenotypeQuality
all individuals: 31862
bin: 6.25e1
variant carriers: 13

GenotypeQuality
all individuals: 571
bin: 8.75e1
variant carriers: 19

GenotypeQuality
all individuals: 5629
bin: 6.75e1
variant carriers: 8

GenotypeQuality
all individuals: 2143
bin: 7.75e1
variant carriers: 16

GenotypeQuality
all individuals: 196
bin: 4.75e1
variant carriers: 13

GenotypeQuality
all individuals: 1997
bin: 7.25e1
variant carriers: 20

South Asian
type: Population
allele count: 1242
allele frequency: 8.353510895883777e-2
allele num: 14868
num of homozygotes: 57

European (Non-Finnish)
type: Population
allele count: 5688
allele frequency: 8.602020446433972e-2
allele num: 66124
num of homozygotes: 221

European (Finnish)
type: Population
allele count: 666
allele frequency: 1.007564296520424e-1
allele num: 6610
num of homozygotes: 31

East Asian
type: Population
allele count: 726
allele frequency: 8.400833140476742e-2
allele num: 8642
num of homozygotes: 29

African
type: Population
allele count: 1964
allele frequency: 1.890279114533205e-1
allele num: 10390
num of homozygotes: 192

Other
type: Population
allele count: 100
allele frequency: 1.131221719457014e-1
allele num: 884
num of homozygotes: 7

Latino
type: Population
allele count: 1021
allele frequency: 8.835237106265144e-2
allele num: 11556
num of homozygotes: 38

MQRankSum
type: SiteQuality
SIO_000300: 1.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.69e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.912202e6

MQ
type: SiteQuality
SIO_000300: 5.952e1

QD
type: SiteQuality
SIO_000300: 1.542e1

GenotypeQuality
all individuals: 210
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35927
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 50
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6811
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1758
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2435
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 995
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2707
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.022883226020979e-5
allele num: 66162
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14974
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.968e1

MQRankSum
type: SiteQuality
SIO_000300: -2.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

FS
type: SiteQuality
SIO_000300: 2.562e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

QD
type: SiteQuality
SIO_000300: 1.496e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.72e-1

DP
type: SiteQuality
SIO_000300: 1.648256e6

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

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

Other
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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: 15060
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 6
allele frequency: 5.773672055427252e-4
allele num: 10392
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 7.15e-1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

QD
type: SiteQuality
SIO_000300: 1.496e1

MQ
type: SiteQuality
SIO_000300: 5.939e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.63e-1

FS
type: SiteQuality
SIO_000300: 3.241e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.16e-1

DP
type: SiteQuality
SIO_000300: 1.649898e6

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15254
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.244e0

MQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

FS
type: SiteQuality
SIO_000300: 5.24e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

DP
type: SiteQuality
SIO_000300: 1.659594e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e-1

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 8
allele frequency: 1.207255606193221e-4
allele num: 66266
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15254
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.244e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.541e1

DP
type: SiteQuality
SIO_000300: 1.659594e6

MQ
type: SiteQuality
SIO_000300: 5.959e1

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15304
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66280
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.99e-1

VQSLOD
type: SiteQuality
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MQRankSum
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FS
type: SiteQuality
SIO_000300: 1.1287e1

MQ
type: SiteQuality
SIO_000300: 5.949e1

QD
type: SiteQuality
SIO_000300: 2.014e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

DP
type: SiteQuality
SIO_000300: 1.660092e6

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

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

South Asian
type: Population
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allele frequency: 6.494349915573451e-5
allele num: 15398
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10396
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66316
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.093e0

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.591e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
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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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num of homozygotes: 0

South Asian
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allele frequency: 1.297858533419857e-4
allele num: 15410
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.507886245061673e-5
allele num: 66318
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.504981488727689e-5
allele num: 66446
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
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FS
type: SiteQuality
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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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MQRankSum
type: SiteQuality
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2

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

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66444
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Other
type: Population
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East Asian
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allele frequency: 0.0e0
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Latino
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num of homozygotes: 0

South Asian
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allele frequency: 1.264062697509797e-4
allele num: 15822
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
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ClippingRankSum
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QD
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InbreedingCoeff
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MQRankSum
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MQ
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 38628
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7042
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
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: 66474
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.257703433530374e-4
allele num: 15902
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -5.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.59e-1

DP
type: SiteQuality
SIO_000300: 1.682489e6

VQSLOD
type: SiteQuality
SIO_000300: 8.19e-1

QD
type: SiteQuality
SIO_000300: 1.256e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.08e-1

GenotypeQuality
all individuals: 144
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4809
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 2771
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 83
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 859
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2475
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38599
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7033
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 13
allele frequency: 1.502542764678687e-3
allele num: 8652
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66468
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.284565108094519e-5
allele num: 15912
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.758e0

MQRankSum
type: SiteQuality
SIO_000300: 1.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.683604e6

MQ
type: SiteQuality
SIO_000300: 5.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

QD
type: SiteQuality
SIO_000300: 1.303e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.005e0

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

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

GenotypeQuality
all individuals: 645
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2483
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1008
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1797
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4798
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7046
bin: 6.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504257047444267e-5
allele num: 66478
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.855e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.309e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.683513e6

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 6.75e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e0

QD
type: SiteQuality
SIO_000300: 3.135e1

GenotypeQuality
all individuals: 641
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4803
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 40
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2779
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7068
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1804
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2490
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38627
bin: 6.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15950
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504257047444267e-5
allele num: 66478
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.72e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.639999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.408e1

DP
type: SiteQuality
SIO_000300: 1.684636e6

MQ
type: SiteQuality
SIO_000300: 5.882e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.63e-1

GenotypeQuality
all individuals: 129
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 650
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4806
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 127
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7086
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variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1012
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 38641
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2493
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 866
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15950
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504211793020457e-5
allele num: 66480
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.213e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.49e-1

DP
type: SiteQuality
SIO_000300: 1.684842e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.08e-1

GenotypeQuality
all individuals: 1011
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1806
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2777
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38638
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 866
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4817
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 36
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2493
bin: 7.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15944
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.256317689530686e-4
allele num: 66480
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.685591e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.396e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.92e-1

QD
type: SiteQuality
SIO_000300: 1.051e1

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

FS
type: SiteQuality
SIO_000300: 1.142e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 869
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 36
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1811
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38643
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2778
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2496
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7092
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1011
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 68
bin: 3.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15944
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504392827055001e-5
allele num: 66472
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-2

DP
type: SiteQuality
SIO_000300: 1.685132e6

MQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

QD
type: SiteQuality
SIO_000300: 1.498e1

FS
type: SiteQuality
SIO_000300: 2.371e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.41e0

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.8e-2

GenotypeQuality
all individuals: 73
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38650
bin: 6.25e1
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GenotypeQuality
all individuals: 1812
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 1010
bin: 9.25e1
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GenotypeQuality
all individuals: 7093
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2774
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4806
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 870
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504257047444267e-5
allele num: 66478
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15932
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.136e1

FS
type: SiteQuality
SIO_000300: 3.291e0

DP
type: SiteQuality
SIO_000300: 1.685107e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.003e0

MQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.741e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

MQ
type: SiteQuality
SIO_000300: 6.044e1

GenotypeQuality
all individuals: 306
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1811
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 873
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1175
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2767
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2492
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15666
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66402
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 2.304e0

VQSLOD
type: SiteQuality
SIO_000300: 9.74e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.05e-1

QD
type: SiteQuality
SIO_000300: 1.118e1

DP
type: SiteQuality
SIO_000300: 1.676938e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.869e0

GenotypeQuality
all individuals: 1198
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 2459
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 168
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 105
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 35619
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 70
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2250
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 760
bin: 8.75e1
variant carriers: 6

GenotypeQuality
all individuals: 6402
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 8406
bin: 9.75e1
variant carriers: 4495

GenotypeQuality
all individuals: 1580
bin: 8.25e1
variant carriers: 5

GenotypeQuality
all individuals: 884
bin: 9.25e1
variant carriers: 8

Other
type: Population
allele count: 31
allele frequency: 3.467561521252797e-2
allele num: 894
num of homozygotes: 0

Latino
type: Population
allele count: 202
allele frequency: 1.745592810231594e-2
allele num: 11572
num of homozygotes: 2

South Asian
type: Population
allele count: 250
allele frequency: 1.596627921829097e-2
allele num: 15658
num of homozygotes: 4

African
type: Population
allele count: 2870
allele frequency: 2.759615384615385e-1
allele num: 10400
num of homozygotes: 388

East Asian
type: Population
allele count: 13
allele frequency: 1.502195516524151e-3
allele num: 8654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 193
allele frequency: 2.918935269207501e-2
allele num: 6612
num of homozygotes: 3

European (Non-Finnish)
type: Population
allele count: 1386
allele frequency: 2.086972233933626e-2
allele num: 66412
num of homozygotes: 20

DP
type: SiteQuality
SIO_000300: 1.866257e6

MQRankSum
type: SiteQuality
SIO_000300: 2.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.28e-1

QD
type: SiteQuality
SIO_000300: 1.55e1

VQSLOD
type: SiteQuality
SIO_000300: 6.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.278e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.59e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

GenotypeQuality
all individuals: 1939
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6593
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1007
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 106
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2633
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2392
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6358
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35032
bin: 6.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509844184080203e-5
allele num: 66232
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: 0
allele frequency: 0.0e0
allele num: 15190
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e0

FS
type: SiteQuality
SIO_000300: 8.25e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.89e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.955e1

DP
type: SiteQuality
SIO_000300: 1.734216e6

QD
type: SiteQuality
SIO_000300: 1.31e1

GenotypeQuality
all individuals: 648
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34685
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 697
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 108
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2628
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2383
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1008
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6364
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 1719
bin: 8.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15044
num of homozygotes: 0

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

East Asian
type: Population
allele count: 12
allele frequency: 1.387604070305273e-3
allele num: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510984859931704e-5
allele num: 66182
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.49e-1

QD
type: SiteQuality
SIO_000300: 1.282e1

MQRankSum
type: SiteQuality
SIO_000300: -1.35e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

FS
type: SiteQuality
SIO_000300: 1.119e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.78e-1

DP
type: SiteQuality
SIO_000300: 1.731096e6

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

GenotypeQuality
all individuals: 34764
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 704
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1008
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 880
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6573
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2624
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6360
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 117
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.65335994677312e-5
allele num: 15030
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5109391998066e-5
allele num: 66184
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
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: 884
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.747e0

FS
type: SiteQuality
SIO_000300: 5.367e0

VQSLOD
type: SiteQuality
SIO_000300: 3.86e-1

QD
type: SiteQuality
SIO_000300: 1.363e1

DP
type: SiteQuality
SIO_000300: 1.730439e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.917e1

MQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.32e-1

GenotypeQuality
all individuals: 124
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6553
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34586
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1008
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2387
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2622
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6359
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 388
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511532996765319e-5
allele num: 66158
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14946
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.417e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-1

FS
type: SiteQuality
SIO_000300: 8.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.307e0

DP
type: SiteQuality
SIO_000300: 1.728155e6

VQSLOD
type: SiteQuality
SIO_000300: 4.3e-1

GenotypeQuality
all individuals: 34310
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2382
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1715
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 881
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2204
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6363
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 119
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6526
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2628
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 4.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66100
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: 14656
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.55e-1

DP
type: SiteQuality
SIO_000300: 1.7233e6

VQSLOD
type: SiteQuality
SIO_000300: 7.26e-1

FS
type: SiteQuality
SIO_000300: 2.125e0

QD
type: SiteQuality
SIO_000300: 1.235e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.383e0

MQ
type: SiteQuality
SIO_000300: 5.897e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-2

GenotypeQuality
all individuals: 108
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 881
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6517
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2251
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2387
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 760
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1007
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1713
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14548
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66052
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.720291e6

FS
type: SiteQuality
SIO_000300: 1.674e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.433e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

VQSLOD
type: SiteQuality
SIO_000300: 5.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.951e1

QD
type: SiteQuality
SIO_000300: 1.368e1

MQRankSum
type: SiteQuality
SIO_000300: 5.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e-1

GenotypeQuality
all individuals: 6499
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 159
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2624
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 762
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2384
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2271
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 881
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1711
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
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: 880
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66004
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.950236308034473e-5
allele num: 14388
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.823e0

VQSLOD
type: SiteQuality
SIO_000300: 3.55e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.432e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e-1

DP
type: SiteQuality
SIO_000300: 1.718785e6

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

MQ
type: SiteQuality
SIO_000300: 5.787e1

GenotypeQuality
all individuals: 142
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2271
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6367
bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34071
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14388
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.63948332369385e-5
allele num: 10374
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.030119386703836e-5
allele num: 66004
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.823e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.55e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.432e1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

MQ
type: SiteQuality
SIO_000300: 5.787e1

DP
type: SiteQuality
SIO_000300: 1.718785e6

GenotypeQuality
all individuals: 880
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2626
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1710
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1006
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 3.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34091
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6501
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6366
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 1
allele frequency: 9.63948332369385e-5
allele num: 10374
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: 880
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515518913676043e-5
allele num: 65984
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.975e1

VQSLOD
type: SiteQuality
SIO_000300: 8.79e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.461e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.188e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.79e-1

FS
type: SiteQuality
SIO_000300: 5.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.81e-1

DP
type: SiteQuality
SIO_000300: 1.718646e6

GenotypeQuality
all individuals: 130
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 96

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 810
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 403
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variant carriers: 0

GenotypeQuality
all individuals: 2620
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 71
allele frequency: 8.215690812311965e-3
allele num: 8642
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: 1
allele frequency: 1.136363636363636e-3
allele num: 880
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65974
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.731301939058172e-4
allele num: 11552
num of homozygotes: 0

South Asian
type: Population
allele count: 24
allele frequency: 1.672007802703079e-3
allele num: 14354
num of homozygotes: 1

QD
type: SiteQuality
SIO_000300: 1.276e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.04e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.23e-1

MQ
type: SiteQuality
SIO_000300: 5.989e1

MQRankSum
type: SiteQuality
SIO_000300: 5.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.51e0

DP
type: SiteQuality
SIO_000300: 1.722469e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

GenotypeQuality
all individuals: 2221
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
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variant carriers: 0

GenotypeQuality
all individuals: 98
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variant carriers: 0

GenotypeQuality
all individuals: 179
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variant carriers: 0

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

GenotypeQuality
all individuals: 6489
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variant carriers: 0

GenotypeQuality
all individuals: 1705
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 879
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variant carriers: 0

GenotypeQuality
all individuals: 147
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variant carriers: 0

GenotypeQuality
all individuals: 6350
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33913
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2623
bin: 7.75e1
variant carriers: 1

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: 11548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65958
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 7.016559079427449e-5
allele num: 14252
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -3.549e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.437e0

MQRankSum
type: SiteQuality
SIO_000300: 1.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 1.715047e6

QD
type: SiteQuality
SIO_000300: 1.658e1

GenotypeQuality
all individuals: 785
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6501
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variant carriers: 0

GenotypeQuality
all individuals: 69
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GenotypeQuality
all individuals: 2379
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variant carriers: 0

GenotypeQuality
all individuals: 100
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variant carriers: 0

GenotypeQuality
all individuals: 6388
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 147
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variant carriers: 0

GenotypeQuality
all individuals: 1708
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2262
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variant carriers: 0

GenotypeQuality
all individuals: 168
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variant carriers: 0

GenotypeQuality
all individuals: 62
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variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1007
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515794579518584e-5
allele num: 65972
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14350
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.992e-1

DP
type: SiteQuality
SIO_000300: 1.719166e6

MQ
type: SiteQuality
SIO_000300: 5.927e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.98e-1

FS
type: SiteQuality
SIO_000300: 3.88e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.288e1

GenotypeQuality
all individuals: 180
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6493
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
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variant carriers: 0

GenotypeQuality
all individuals: 124
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variant carriers: 0

GenotypeQuality
all individuals: 33895
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GenotypeQuality
all individuals: 1709
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variant carriers: 0

GenotypeQuality
all individuals: 389
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GenotypeQuality
all individuals: 2377
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GenotypeQuality
all individuals: 1008
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2633
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6389
bin: 9.75e1
variant carriers: 1

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: 10368
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14270
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516116316443798e-5
allele num: 65958
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: 8642
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

DP
type: SiteQuality
SIO_000300: 1.719039e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.075e0

MQ
type: SiteQuality
SIO_000300: 5.869e1

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

QD
type: SiteQuality
SIO_000300: 1.389e1

FS
type: SiteQuality
SIO_000300: 3.216e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

GenotypeQuality
all individuals: 124
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2293
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
all individuals: 6389
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 6493
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1008
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14270
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.032232632887595e-5
allele num: 65958
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

FS
type: SiteQuality
SIO_000300: 3.216e0

DP
type: SiteQuality
SIO_000300: 1.719039e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.075e0

QD
type: SiteQuality
SIO_000300: 1.389e1

MQ
type: SiteQuality
SIO_000300: 5.869e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

GenotypeQuality
all individuals: 6387
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 140
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2628
bin: 7.75e1
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GenotypeQuality
all individuals: 758
bin: 3.25e1
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GenotypeQuality
all individuals: 2314
bin: 2.25e1
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GenotypeQuality
all individuals: 178
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1008
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
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variant carriers: 0

GenotypeQuality
all individuals: 1708
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516484183069971e-5
allele num: 65942
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14248
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
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: 11552
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.404999999999999e0

FS
type: SiteQuality
SIO_000300: 1.47083e2

DP
type: SiteQuality
SIO_000300: 1.718769e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.797e1

QD
type: SiteQuality
SIO_000300: 5.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.07e0

MQ
type: SiteQuality
SIO_000300: 4.972e1

GenotypeQuality
all individuals: 172
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.75e1
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GenotypeQuality
all individuals: 141
bin: 4.25e1
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GenotypeQuality
all individuals: 2375
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GenotypeQuality
all individuals: 2276
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 834
bin: 2.75e1
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GenotypeQuality
all individuals: 2628
bin: 7.75e1
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GenotypeQuality
all individuals: 400
bin: 3.75e1
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GenotypeQuality
all individuals: 785
bin: 3.25e1
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GenotypeQuality
all individuals: 114
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 2.5e0
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GenotypeQuality
all individuals: 6386
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 877
bin: 8.75e1
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GenotypeQuality
all individuals: 1009
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6493
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
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)
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allele count: 0
allele frequency: 0.0e0
allele num: 65960
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14282
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.227e0

DP
type: SiteQuality
SIO_000300: 1.718259e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.824e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.15e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.626e-1

QD
type: SiteQuality
SIO_000300: 1.293e1

MQ
type: SiteQuality
SIO_000300: 5.77e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
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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: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65932
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: 14226
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.88e1

DP
type: SiteQuality
SIO_000300: 1.718334e6

FS
type: SiteQuality
SIO_000300: 3.505e0

VQSLOD
type: SiteQuality
SIO_000300: -8.318e-1

MQRankSum
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QD
type: SiteQuality
SIO_000300: 1.435e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.363e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.25e-1

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14388
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65980
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.977e1

FS
type: SiteQuality
SIO_000300: 3.942e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.11e0

DP
type: SiteQuality
SIO_000300: 1.720509e6

MQRankSum
type: SiteQuality
SIO_000300: 3.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.428e0

QD
type: SiteQuality
SIO_000300: 1.272e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

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: 8648
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.544903648042661e-5
allele num: 66008
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.923e0

VQSLOD
type: SiteQuality
SIO_000300: 4.0e-1

QD
type: SiteQuality
SIO_000300: 1.056e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.3e-1

DP
type: SiteQuality
SIO_000300: 1.721534e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
all individuals: 877
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.028375882014476e-5
allele num: 66042
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.724288e6

MQRankSum
type: SiteQuality
SIO_000300: 1.97e-1

FS
type: SiteQuality
SIO_000300: 1.7e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.63e-1

QD
type: SiteQuality
SIO_000300: 1.177e1

VQSLOD
type: SiteQuality
SIO_000300: 3.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.907e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.38e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513775355737209e-5
allele num: 66060
num of homozygotes: 0

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

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14634
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.725415e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 1.097e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

VQSLOD
type: SiteQuality
SIO_000300: 4.24e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.419e0

QD
type: SiteQuality
SIO_000300: 1.357e1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510254628930438e-5
allele num: 66214
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
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allele num: 15152
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

QD
type: SiteQuality
SIO_000300: 1.409e1

DP
type: SiteQuality
SIO_000300: 1.735234e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.966e1

VQSLOD
type: SiteQuality
SIO_000300: 5.88e-1

FS
type: SiteQuality
SIO_000300: 5.927e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.877e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 19

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.960133892222792e-4
allele num: 66322
num of homozygotes: 0

Other
type: Population
allele count: 0
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num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.918287937743191e-4
allele num: 10280
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15672
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.728608470181504e-4
allele num: 11570
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-2

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.2e-1

MQ
type: SiteQuality
SIO_000300: 5.719e1

VQSLOD
type: SiteQuality
SIO_000300: 3.55e0

MQRankSum
type: SiteQuality
SIO_000300: -6.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.708e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.961553550411926e-4
allele num: 10196
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66250
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

QD
type: SiteQuality
SIO_000300: 1.181e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.5688e1

MQ
type: SiteQuality
SIO_000300: 5.909e1

MQRankSum
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SIO_000300: 1.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.013e0

DP
type: SiteQuality
SIO_000300: 1.742241e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15846
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509433962264151e-5
allele num: 66250
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

MQ
type: SiteQuality
SIO_000300: 5.909e1

VQSLOD
type: SiteQuality
SIO_000300: -1.538e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.013e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 1.5688e1

DP
type: SiteQuality
SIO_000300: 1.742241e6

QD
type: SiteQuality
SIO_000300: 1.181e1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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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: 8650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66272
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.30596544330937e-5
allele num: 15858
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10216
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.55e0

FS
type: SiteQuality
SIO_000300: 3.8165e1

QD
type: SiteQuality
SIO_000300: 1.746e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.013999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

DP
type: SiteQuality
SIO_000300: 1.74301e6

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

GenotypeQuality
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variant carriers: 0

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

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: 8650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.016682252858306e-5
allele num: 66298
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.788566953797964e-5
allele num: 10216
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15928
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.92e-1

DP
type: SiteQuality
SIO_000300: 1.743588e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 5.19e-1

QD
type: SiteQuality
SIO_000300: 1.446e1

MQ
type: SiteQuality
SIO_000300: 5.962e1

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

VQSLOD
type: SiteQuality
SIO_000300: 5.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.626e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.19e-1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507204437209863e-5
allele num: 66348
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10252
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.0254e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.25e-1

DP
type: SiteQuality
SIO_000300: 1.747109e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.183e0

MQ
type: SiteQuality
SIO_000300: 5.862e1

VQSLOD
type: SiteQuality
SIO_000300: -2.193e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.121e0

GenotypeQuality
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variant carriers: 0

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

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

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

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

African
type: Population
allele count: 6
allele frequency: 5.859375e-4
allele num: 10240
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66308
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.589e1

VQSLOD
type: SiteQuality
SIO_000300: 3.48e0

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.83e-1

MQ
type: SiteQuality
SIO_000300: 5.878e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.2e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.5e-1

FS
type: SiteQuality
SIO_000300: 2.444e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.91e-1

DP
type: SiteQuality
SIO_000300: 1.747928e6

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.265664160401002e-5
allele num: 15960
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.524340954334319e-5
allele num: 66308
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10240
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

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

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

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

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66300
num of homozygotes: 0

African
type: Population
allele count: 0
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.53e-1

MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
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FS
type: SiteQuality
SIO_000300: 4.319e0

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.510574018126888e-5
allele num: 66200
num of homozygotes: 0

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

Other
type: Population
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -1.3e-3

MQRankSum
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ReadPosRankSum
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.198e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.84e-1

DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 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: 66348
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.222775357809582e-5
allele num: 16070
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.86e0

VQSLOD
type: SiteQuality
SIO_000300: -5.99e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.751371e6

QD
type: SiteQuality
SIO_000300: 1.476e1

MQRankSum
type: SiteQuality
SIO_000300: 7.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.013e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.437e0

GenotypeQuality
all individuals: 925
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 451
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6271
bin: 6.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.556468683850081e-5
allele num: 64248
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16056
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5940
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.519e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e0

DP
type: SiteQuality
SIO_000300: 1.795876e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.482e0

MQRankSum
type: SiteQuality
SIO_000300: 1.67e-1

QD
type: SiteQuality
SIO_000300: 1.37e0

VQSLOD
type: SiteQuality
SIO_000300: -1.423e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.6e-3

FS
type: SiteQuality
SIO_000300: 5.0056e1

MQ
type: SiteQuality
SIO_000300: 5.96e1

GenotypeQuality
all individuals: 92
bin: 1.25e1
variant carriers: 2

GenotypeQuality
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bin: 4.25e1
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 11

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 5.877742946708464e-4
allele num: 5104
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15994
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.337434800053497e-4
allele num: 59816
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11290
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.203369434416366e-4
allele num: 8310
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.182872013248167e-4
allele num: 8454
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.288659793814433e-3
allele num: 776
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.429e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.74e-2

FS
type: SiteQuality
SIO_000300: 2.18844e2

DP
type: SiteQuality
SIO_000300: 1.91489e6

QD
type: SiteQuality
SIO_000300: 2.17e0

VQSLOD
type: SiteQuality
SIO_000300: -2.326e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.971e0

MQRankSum
type: SiteQuality
SIO_000300: -5.9e-1

MQ
type: SiteQuality
SIO_000300: 5.794e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.98e0

GenotypeQuality
all individuals: 35138
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2259
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variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.708737864077671e-5
allele num: 10300
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16112
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: 66444
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.291e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-1

QD
type: SiteQuality
SIO_000300: 1.225e1

VQSLOD
type: SiteQuality
SIO_000300: 5.570000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.937872e6

GenotypeQuality
all individuals: 34907
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 138
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variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504755025881786e-5
allele num: 66456
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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: 10324
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16116
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.26e-1

DP
type: SiteQuality
SIO_000300: 1.937255e6

QD
type: SiteQuality
SIO_000300: 1.389e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.37e0

FS
type: SiteQuality
SIO_000300: 2.898e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.07e-1

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
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variant carriers: 0

GenotypeQuality
all individuals: 886
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variant carriers: 0

GenotypeQuality
all individuals: 8779
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 273
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GenotypeQuality
all individuals: 129
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variant carriers: 0

GenotypeQuality
all individuals: 174
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GenotypeQuality
all individuals: 2252
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 77
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variant carriers: 0

GenotypeQuality
all individuals: 2419
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.68429207824908e-5
allele num: 10326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66446
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16108
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.937901e6

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e-1

FS
type: SiteQuality
SIO_000300: 1.133e0

MQRankSum
type: SiteQuality
SIO_000300: 6.31e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.852e0

QD
type: SiteQuality
SIO_000300: 1.228e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.41e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
all individuals: 1631
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16116
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.682416731216112e-5
allele num: 10328
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504664459825459e-5
allele num: 66460
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -5.945e-1

QD
type: SiteQuality
SIO_000300: 2.408e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.36e-1

DP
type: SiteQuality
SIO_000300: 1.936363e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.75e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
all individuals: 250
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16088
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66442
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.869969040247678e-4
allele num: 10336
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.66e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.49e-1

DP
type: SiteQuality
SIO_000300: 1.936769e6

FS
type: SiteQuality
SIO_000300: 1.102e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.47e-1

QD
type: SiteQuality
SIO_000300: 1.189e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16118
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
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: 66442
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.744e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.94e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.57e0

DP
type: SiteQuality
SIO_000300: 1.936773e6

QD
type: SiteQuality
SIO_000300: 1.283e1

GenotypeQuality
all individuals: 512
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 12
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GenotypeQuality
all individuals: 371
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GenotypeQuality
all individuals: 16
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 8800
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GenotypeQuality
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GenotypeQuality
all individuals: 242
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GenotypeQuality
all individuals: 34220
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.111111111111111e-3
allele num: 900
num of homozygotes: 0

South Asian
type: Population
allele count: 15
allele frequency: 9.306365554038963e-4
allele num: 16118
num of homozygotes: 0

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

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

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: 10344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505072092953252e-5
allele num: 66442
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.744e0

DP
type: SiteQuality
SIO_000300: 1.936773e6

QD
type: SiteQuality
SIO_000300: 1.283e1

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.57e0

VQSLOD
type: SiteQuality
SIO_000300: 2.23e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.91e-1

GenotypeQuality
all individuals: 488
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2424
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8793
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1008
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34572
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6205
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728907330567082e-4
allele num: 11568
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.205783790492739e-5
allele num: 16114
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505026789476853e-5
allele num: 66444
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.34e-1

DP
type: SiteQuality
SIO_000300: 1.937307e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.98e-1

QD
type: SiteQuality
SIO_000300: 1.425e1

MQRankSum
type: SiteQuality
SIO_000300: 3.17e-1

MQ
type: SiteQuality
SIO_000300: 5.902e1

GenotypeQuality
all individuals: 795
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 925
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6201
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 511
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2242
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2424
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1009
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
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: 16132
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.009328919650918e-5
allele num: 66460
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.952e1

FS
type: SiteQuality
SIO_000300: 7.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.54e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-1

QD
type: SiteQuality
SIO_000300: 1.286e1

DP
type: SiteQuality
SIO_000300: 1.936546e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.58e-1

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

GenotypeQuality
all individuals: 206
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1639
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 906
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8798
bin: 9.75e1
variant carriers: 8